부산대학교 도서관

Mohammad Hamid; Bijan keikhaei; Hamid Galehdari; Alihossein Saberi; Alireza Sedaghat; Gholamreza Shariati; Marziye Mohammadi-Anaei

Scientific Reports, Vol 12, Iss 1, Pp 1-7 (2022)

Finsterer, Josef; Zarrouk-Mahjoub, Sinda

In: Archives of Iranian Medicine (AIM); (, ) Dec2017; v.20 n.12, 767-769. (3p)

Biglari S; Farin Genetics Laboratory, Tehran, Iran. S1369b@yahoo.com.; Rezaei H; Department of Genetics, Faculty of Biological Sciences and Technology, Shahid Ashrafi Esfahani University, Isfahan, Iran.; Asadollahzadeh E; Multiple Sclerosis Research Center, Neuroscience Institute, Tehran University of Medical Sciences (TUMS), Tehran, Iran.; Nikuei P; Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.; Dr. Nikuei Genetic Center, Bandar Abbas, Iran.; Sahraian MA; Multiple Sclerosis Research Center, Neuroscience Institute, Tehran University of Medical Sciences (TUMS), Tehran, Iran.; Sohanforooshan Moghaddam A; Farin Genetics Laboratory, Tehran, Iran.; Vahidnezhad H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.; Youssefian L; Department of Pathology, Cytogenetics Laboratory, City of Hope National Medical Center, Irwindale, CA, USA.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Chamanrou N; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Heydaran S; Department of Biology, Islamic Azad University, Branch Kazerun, Province Fars, Iran.; Parvas S; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Shariati G; Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Saberi A; Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.; Zareei T; Hormozgan University of Medical Science, Bandar Abbas, Iran.; Tabasi S; Student Research Committee, Faculty of Pharmacy, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.; Ranjbar S; Student Research Committee, Faculty of Pharmacy, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.; Khademi G; Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Golmakani H; Pediatric Department, Faculty of Medicine, Mashhad Azad University, Mashhad, Iran.; Hashemi N; Rare Pediatric Neurological Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Akhavan H; Pediatric Intensive Care, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Naseri M; Fellowship of Pediatric Intensive Care, Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Donyadideh N; Private Pediatric Neurology Practice, Mashhad, Iran.; Barkhordari E; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK.; Beiraghi Toosi M; Rare Pediatric Neurological Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Arabi S; Mashhad University of Medical Science, Pediatric Akbar Hospital, Mashhad, Iran.; Heidari N; Sechenov University, Moscow, Russia.; Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Badpar H; Pharmaceutical Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Saeidinia A; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Imannezhad S; Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Bagheri S; Department of Internal Medicine, Faculty of Medicine, Mashhad Medical Science, Islamic Azad University, Mashhad, Iran.; Lotfi M; Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Mirsadraee M; Department of Internal Medicine, Faculty of Medicine, Mashhad Medical Science, Islamic Azad University, Mashhad, Iran.; Loghmani T; Department of Pediatrics, Hasheminezhad Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Darabi A; Department of Pediatric Gastroenterology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Derafshi R; Neonatal Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Behmadi M; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Neonatal Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Boskabadi A; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Akhondian S; Student Research Committee, School of Dentistry, Mashhad University of Medical Science, Mashhad, Iran.; Eshraghi P; Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Hosseini M; Department of Pediatrics, Faculty of Medicine, Birjand University of Medical Sciences, Birjand, Iran.; Farhat A; Neonatal Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Ghane Sharbaf F; Pediatric Nephrology Department, Dr. Shaikh Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.; Norooziasl S; Pediatrics Endocrinology, Faculty of Medicine, Mashhad University of Medical Science, Mashhad, Iran.; Ghaemi N; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Ahangari N; Innovative Medical Research Centre, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Etemadifar M; Neurology Department, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Moosavian T; Pediatric Neurology Department, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Shervin Badv R; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Sarraf P; Department of Neuromuscular Diseases, Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.; Department of Neurology, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.; Haghighatzadeh M; Department of Neurology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Heidari M; Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Ghayoor Karimiani E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE; In Process

De Nittis P.; Efthymiou S.; Sarre A.; Guex N.; Chrast J.; Putoux A.; Sultan T.; Raza Alvi J.; Ur Rahman Z.; Zafar F.; Rana N.; Rahman F.; Anwar N.; Maqbool S.; Zaki M. S.; Gleeson J. G.; Murphy D.; Galehdari H.; Shariati G.; Mazaheri N.; Sedaghat A.; Lesca G.; Chatron N.; Salpietro V.; Christoforou M.; Houlden H.; Simonds W. F.; Pedrazzini T.; Maroofian R.; Reymond A.; SYNAPS STUDY GROUP: SYNAPS Study Group: Stanislav Groppa; Blagovesta Marinova Karashova; Wolfgang Nachbauer; Sylvia Boesch; Larissa Arning; Dagmar Timmann; Bru Cormand; Belen Pérez-Dueñas; Jatinder S Goraya; Tipu Sultan; Jun Mine; Daniela Avdjieva; Hadil Kathom; Radka Tincheva; Selina Banu; Mercedes Pineda-Marfa; Pierangelo Veggiotti; Michel D. Ferrari; Arn M. J. M. van den Maagdenberg; Alberto Verrotti; Giangluigi Marseglia; Salvatore Savasta; Mayte García-Silva; Alfons Macaya Ruiz; Barbara Garavaglia; Eugenia Borgione; Simona Portaro; Benigno Monteagudo Sanchez; Richard Boles; Savvas Papacostas; Michail Vikelis; Eleni Zamba Papanicolaou; Efthymios Dardiotis; Shazia Maqbool; Shahnaz Ibrahim; Salman Kirmani; Nuzhat Noureen Rana; Osama Atawneh; George Koutsis; Salvatore Mangano; Carmela Scuderi; Giovanna Morello; Tanya Stojkovic; Massimo Zollo; Gali Heimer; Yves A. Dauvilliers; Pasquale Striano; Issam Al-Khawaja; Fuad Al-Mutairi; Hamed Sherifa.

J Med Genet
Dipòsit Digital de la UB
Universidad de Barcelona
Articles publicats en revistes (Genètica, Microbiologia i Estadística)
instname
Journal of medical genetics, vol. 58, no. 12, pp. 815-831

Beheshti P; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Akbarian F; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Esmaeilzadeh E; Genetics Research Center, University of Social Welfare and Rehabilitation Science, Tehran, Iran.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Khorrami M; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Vallian S; Division of Genetics, Department of Cell and Molecular Biology& Microbiology, Faculty of Science and Technology, University of Isfahan, Isfahan, Iran.; Abdi A; Department of Pediatrics, Urmia University of Medical Sciences, Urmia, Iran.; Güngör Ö; Ege University Faculty of Medicine, Medical Genetics, Izmir, Turkiye.; Tuncel R; Ege University Faculty of Medicine, Neurology, Izmir, Turkiye.; Aykut A; Ege University Faculty of Medicine, Medical Genetics, Izmir, Turkiye.; Ekmekci Ö; Ege University Faculty of Medicine, Neurology, Izmir, Turkiye.; Akın H; Ege University Faculty of Medicine, Medical Genetics, Izmir, Turkiye.; Durmaz A; Ege University Faculty of Medicine, Medical Genetics, Izmir, Turkiye.; Moghaddam AS; Farin Genetics Laboratory, Tehran, Iran.; Chamanrou N; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Karimi F; Farin Genetics Laboratory, Tehran, Iran.; Kazemi A; Division of Genetics, Department of Cell and Molecular Biology& Microbiology, Faculty of Science and Technology, University of Isfahan, Isfahan, Iran.; Habibi M; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Khorshid HRK; Genetics Research Center, University of Social Welfare and Rehabilitation Science, Tehran, Iran.; Parvini F; Faragene Genetics Laboratory, Department of Biology, Faculty of Basic Sciences, Semnan University, Semnan, Iran.; Yiş U; Faculty of Medicine, Department of Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey.; Polat I; Faculty of Medicine, Department of Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey.; Youssefian L; Department of Pathology, Cytogenetics Laboratory, City of Hope National Medical Center, Irwindale, California, USA.; Vahidnezhad H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Heidari M; Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Sarraf P; Department of Neuromuscular Diseases, Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.; Karimiani EG; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Biglari S; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Farin Genetics Laboratory, Tehran, Iran.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Osborn, D. P. S.; Emrahi, L.; Clayton, J.; Tabrizi, M. T.; Wan, A. Y. B.; Maroofian, R.; Yazdchi, M.; Garcia, M. L. E.; Galehdari, H.; Hesse, Camilla; Shariati, G.; Mazaheri, N.; Sedaghat, A.; Goullee, H.; Laing, N.; Jamshidi, Y.; Tajsharghi, H.

Genetics in Medicine. 23(4):787-792

Efthymiou, Stephanie; Leo, Cailyn P.; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; V. Derrick, Anna; Rees, Mark I.; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M.; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H.; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans, PhD, 1973; Frykholm, Carina; Bozdogan, Sevcan Tug; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tumer, Zeynep; Hjortshoj, Tina D.; Ronde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J.; Zaki, Maha S.; Gleeson, Joseph G.; Calame, Daniel G.; Pehlivan, Davut; Yilmaz, Halil I.; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoglu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K.; Glazunova, Olga O.; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E.; Varshney, Gaurav K.; Houlden, Henry; Fu, Dragony

American Journal of Human Genetics. 112(5)

Ramhormozi GM; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Khatami SR; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Sabaeian M; Department of Physics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran. sabaeian@scu.ac.ir.; Center for Research on Laser and Plasma, Shahid Chamran University of Ahvaz, Ahvaz, Iran. sabaeian@scu.ac.ir.; Deinavizadeh M; Department of Chemistry, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Kiasat A; Department of Chemistry, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Dafsari HS; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Department of Pediatric Neurology, Evelina London Children's Hospital, Guy's & St Thomas NHS Foundation Trust, London, UK.; Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Deneubourg C; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Singh K; UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology, University College London, London, UK.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Suprenant Z; Vici Syndrome Foundation, Inc, Silver Spring, Maryland, USA.; Kho AL; Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Ingham NJ; Wolfson Sensory Pain and Regeneration Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Steel KP; Wolfson Sensory Pain and Regeneration Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Sheshadri P; UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology, University College London, London, UK.; Baur F; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Hentrich L; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Gerisch B; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Zamani M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Alves C; Department of Radiology, Boston Children's Hospital, Boston, MA, USA.; Siddiqui A; Department of Radiology, Guy's and Saint Thomas' Hospitals NHS Trust, London, UK.; Dafsari HS; Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Salari M; Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Lang AE; Edmond J Safra Program in Parkinson's Disease, Krembil Brain Institute, University Health Network and the Department of Medicine, University of Toronto, Toronto, ON, Canada.; Harris M; Vici Syndrome Foundation, Inc, Silver Spring, Maryland, USA.; Abdelaleem A; Department of Neurology, Weill Cornell Medicine Qatar, Education City, Doha, Qatar.; Medical Molecular Genetics, Institute Human Genetics and Genome Research, National Research Centre, Dokki, Egypt.; Sadeghian S; Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.; Azizimalamiri R; Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.; Galehdari H; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Zeighami J; Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Calame D; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Marafi D; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Boehnke A; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Clark GD; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratories, Houston, TX, USA.; Mohila CA; Department of Pathology, Department of Pathology and Immunology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.; Steel D; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS-Institute of Child Health, London, UK.; Chopra S; Indraprastha Apollo Hospital, New Delhi, India.; Sharma S; Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.; Kohlschmidt N; Institute for Clinical Genetics and Tumour Genetics, Bonn, Germany.; Laboratoire national de santé, National Center of Genetics, Dudelange, Luxembourg.; Patzer S; Department of Pediatrics, Krankenhaus St. Elisabeth und St. Barbara, Halle (Saale), Germany.; Saffari A; Division of Child Neurology and Metabolic Medicine, Department of Pediatrics I, Center for Pediatrics and Adolescent Medicine, Medical Faculty Heidelberg, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.; Ebrahimi-Fakhari D; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Çavdartepe BE; Department of Medical Genetics, Konya City Hospital, Konya, Turkey.; Chang IJ; Department of Pediatrics, Division of Medical Genetics, University of California at San Francisco, San Francisco, CA, USA.; Beckman E; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Peters R; Christliches Kinderhospital Osnabrück, Osnabrück, Germany.; Fennell AP; Monash Genetics, Monash Health, Melbourne, Vic, Australia.; Department of Paediatrics, Monash University, Melbourne, Vic, Australia.; Lo B; Research Branch, Sidra Medicine, Doha; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Averdunk L; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.; Baethmann M; Department of Pediatrics, Hospital Dritter Orden, Munich, Germany.; Elmslie F; St George's University Hospitals NHS Foundation Trust, London, UK.; Joost K; Faculty of Medicine, University of Tartu, Tartu, Estonia.; Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Cochin, India.; Yesodharan D; Department of Metabolic and Genetic Disorders, Ziv, Medical Center, Safed, Israel.; Mandel H; Department of Metabolic and Genetic Disorders, Ziv, Medical Center, Safed, Israel.; Kimball A; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.; Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.; Mignot C; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC Déficience Intellectuelle et Autisme, Paris, France.; Keren B; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC Déficience Intellectuelle et Autisme, Paris, France.; Laugel V; Service de Pédiatrie, Centre Hospitalier Universitaire (CHU) de Strasbourg-Hautepierre, Strasbourg, France.; Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Devadathan K; Department of Pediatric Neurology, Government Medical College, Thiruvananthapuram, India.; van Berkestijn FMC; Department of Pediatric Neurology, University Medical Center Utrecht, Utrecht, the Netherlands.; Silwal A; St Bart's Health NHS Trust, London, UK.; Koene S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Verma S; Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA.; Karim MY; Department of Pathology, Sidra Medicine, College of Medicine, Qatar University, Doha, Qatar.; Boubidi C; Department of Pediatrics A, Hussein Dey University Hospital Center, University of Algiers 1, Algiers, Algeria.; Aziz M; Department of Pediatric Neurology, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; ElGhazali G; Department of Medical Microbiology and Immunology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; Mattas L; Stanford Children's Hospital, Palo Alto, CA, USA.; Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Alavi S; Palindrome, Isfahan, Iran.; Nouri N; Karyogen Lab, Isfahan, Iran.; Noruzinia M; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Kavousi S; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.; Kamath A; Cardiff and Vale UHB-AWMGS, Cardiff, UK.; Jayawant S; Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Saneto R; Neuroscience Institute, Center for Integrated Brain Research, Department of Neurology/Division of Pediatric Neurology, Seattle Children's Hospital, Seattle, WA, USA.; Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt.; Kart PO; Department of Pediatrics Neurology, Karadeniz Technical University, Trabzon, Turkey.; Cansu A; Genetics Department, Nantes University Hospital, Nantes, France.; Joubert M; Genetics Department, Nantes University Hospital, Nantes, France.; Beneteau C; Genetics Department, Nantes University Hospital, Nantes, France.; Stuurman KE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Tajsharghi H; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, Skovde, Sweden.; Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Vallian S; Department of Cell and Molecular Biology & Microbiology, Faculty of Science and Technology, University of Isfahan, Isfahan, Iran.; Hız S; Faculty of Medicine, Pediatric Neurology Department, Dokuz Eylül University, Izmir, Turkey.; Shoeibi A; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.; Boostani R; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Rare Pediatric Neurological Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Alsaleh NS; Department of Genetics and Precision Medicine, King Abdullah Specialized Children's Hospital, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Porter J; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.; Attié-Bitach T; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Marzin P; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Wicher D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Gold JI; Division of Medical Genetics, Department of Pediatrics, Cohen Children's Medical Center, New Hyde Park, NY, USA.; Schuler E; Division of Child Neurology and Metabolic Medicine, Department of Pediatrics I, Center for Pediatrics and Adolescent Medicine, Medical Faculty Heidelberg, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.; Kashgari A; Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Alanazi RF; Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Eyaid W; Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Engelen M; Amsterdam Leukodystrophy Center, Department of Pediatric Neurology, Emma Children's Hospital, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.; Langeveld M; Department of Endocrinology and Metabolism, Amsterdam UMC, Research Institute Gastroenterology, Endocrinology & Metabolism (AGEM), University of Amsterdam, Amsterdam, the Netherlands.; Stüve B; Department for Neuropediatrics, DRK Children's Hospital Siegen, Siegen, Germany.; Li Y; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Lower Saxony, Göttingen, Germany.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Lower Saxony, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines To Networks of Excitable Cells' (MBExC), University of Göttingen; German Center for Child and Adolescent Health (DZKJ), Partner Site Göttingen, Göttingen, Germany.; Monje MHG; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Krainc D; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Mencacci NE; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Argilli E; Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, CA, USA.; Sherr E; Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, CA, USA.; Jamshidi Y; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.; Cheung YWS; Life Sciences Institute, Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, BC, Canada.; Karin I; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.; Zifarelli G; CENTOGENE GmbH, Rostock, Germany.; Bauer P; CENTOGENE GmbH, Rostock, Germany.; Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Kurian MA; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS-Institute of Child Health, London, UK.; Dötsch J; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; von Kleist-Retzow JC; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Wagner M; Institute of Human Genetics, School of Medicine and Health, Technische Universität München, Munich, Germany.; Yip C; Life Sciences Institute, Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, BC, Canada.; Roos A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.; Department of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Carsetti R; Immunology Research Area, B Cell Unit, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy.; Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Gautel M; Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Duchen MR; UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology, University College London, London, UK.; Antebi A; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Fanto M; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Jungbluth H; Department of Pediatric Neurology, Evelina London Children's Hospital, Guy's & St Thomas NHS Foundation Trust, London, UK.; Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Zamani M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Dorison N; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Centre, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Centre, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Alvi JR; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan.; Sultan T; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Leeuwen L; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Zifarelli G; CENTOGENE GmbH, Rostock, Germany.; Bauer P; CENTOGENE GmbH, Rostock, Germany.; d'Hardemare V; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Doummar D; AP-HP. Sorbonne Université, Service de Neuropédiatrie et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, FHU I2D2, Paris, France.; Roze E; Assistance Publique-Hôpitaux de Paris CHU Pitié-Salpêtrière DMU Neurosciences et Sorbonne Université, INSERM, CNRS, Institut du Cerveau, Paris, France.; Travaglini L; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy.; Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS, Bambino Gesù Children's Hospital of Rome, Rome, Italy.; Ojea Ponce N; Department of Statistics, Institut de Recerca Sant Joan de Déu Barcelona, Barcelona, Spain.; Zahraei SM; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Tamim A; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Ababneh F; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Morrow MM; GeneDx, Gaithersburg, Maryland, USA.; Curry C; Department of Pediatrics, Genetic Medicine, UCSF/Fresno, Fresno, California, USA.; Tam A; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Ruedy J; Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA.; Bhambhani V; Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA.; Veith R; Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA.; Strømme P; Division of Pediatrics and Adolescent Medicine, Oslo, University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada.; Burglen L; Centre de Référence Maladies Rares 'Malformations et Maladies Congénitales du Cervelet,' Hôpital Trousseau, APHP, Sorbonne University, Paris, France.; Département de Génétique, APHP, Sorbonne University, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR, Paris, France.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Zabihi R; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Chamanrou N; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Ashoori S; Department of Dermatology, School of Medicine, Jundishapur University of Medical Sciences, Ahvaz, Iran.; Parvas S; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Yadegari T; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Mousavi F; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Khajevandian E; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Sarvari M; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Shojaei K; Department of Obstetrics and Gynecology, Fertility, Infertility and Perinatology Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Nourbakhsh P; Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Keikhaei B; Thalassemia & Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Aminzadeh M; Health Research Institute, Diabetes Research Center, Jundishapur University of Medical Sciences, Ahvaz, Iran.; Pediatric Endocrinology and Metabolism, Pediatric Department, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Ahmadi R; Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Anaei MM; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Health Research Institute, Diabetes Research Center, Jundishapur University of Medical Sciences, Ahvaz, Iran.; Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Medical Genetics, Jundishapur University of Medical Sciences, Ahvaz, Iran.; Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Medical Genetics, Jundishapur University of Medical Sciences, Ahvaz, Iran.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Laugwitz L; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen 72076, Germany.; Cheng F; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Collins SC; Inserm UMR1231, Université de Bourgogne, Dijon Cedex 21070, France.; Hustinx A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn 53127, Germany.; Navarro N; Biogeosciences, UMR 6282 CNRS, EPHE, Université de Bourgogne, Dijon 2100, France.; EPHE, PSL University, Paris 75014, France.; Welsch S; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf 40225, Germany.; Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham B15 2TG, UK.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn 53127, Germany.; Vijayananth A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn 53127, Germany.; Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Bender B; Diagnostic and Interventional Neuroradiology, Radiologic Clinics, University of Tübingen, Tübingen 72076, Germany.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Zafar F; Pediatric Neurology, Children's Hospital, Multan 60000, Pakistan.; Rana N; Pediatric Neurology, Children's Hospital, Multan 60000, Pakistan.; Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Center for Rare Disease, University of Tübingen, Tübingen 72072, Germany.; Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Seibt A; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf 40225, Germany.; Zheng W; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Ghaedi H; Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran.; Thirion M; Inserm UMR1231, Université de Bourgogne, Dijon Cedex 21070, France.; Couette S; Biogeosciences, UMR 6282 CNRS, EPHE, Université de Bourgogne, Dijon 2100, France.; EPHE, PSL University, Paris 75014, France.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715794, Iran.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715794, Iran.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 6155689467, Iran.; Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 6155689467, Iran.; Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 6155689467, Iran.; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715794, Iran.; Ramshe SM; Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran.; Zare A; Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran.; Alipoor B; Department of Laboratory Sciences, Faculty of Paramedicine, Yasuj University of Medical Sciences, Yasuj 7591741417, Iran.; Klee D; Department of Pediatric Radiology, Medical Faculty, Institute of Radiology, Heinrich-Heine-University, Düsseldorf 40225, Germany.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Genomics England, Queen Mary University of London, London EC1M 6BQ, UK.; Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; NGS Competence Center Tübingen (NCCT), University of Tübingen, Tübingen 72076, Germany.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Center for Rare Disease, University of Tübingen, Tübingen 72072, Germany.; Wieczorek D; Medical Faculty and University Hospital Düsseldorf, Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Düsseldorf 40225, Germany.; Gavin R; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham B15 2TG, UK.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn 53127, Germany.; Yalcin B; Inserm UMR1231, Université de Bourgogne, Dijon Cedex 21070, France.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf 40225, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Center for Rare Disease, University of Tübingen, Tübingen 72072, Germany.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Lin, SJ; Vona, B; Barbalho, PG; Kaiyrzhanov, R; Maroofian, R; Petree, C; Severino, M; Stanley, V; Varshney, P; Bahena, P; Alzahrani, F; Alhashem, A; Pagnamenta, AT; Aubertin, G; Estrada-Veras, JI; Hernández, HAD; Mazaheri, N; Oza, A; Thies, J; Renaud, DL; Dugad, S; McEvoy, J; Sultan, T; Pais, LS; Tabarki, B; Villalobos-Ramirez, D; Rad, A; Ambrose, JC; Arumugam, P; Bleda, M; Boardman-Pretty, F; Boustred, CR; Brittain, H; Caulfield, MJ; Chan, GC; Fowler, T; Giess, A; Hamblin, A; Henderson, S; Hubbard, TJP; Jackson, R; Jones, LJ; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Leigh, SEA; Leong, IUS; Lopez, FJ; Maleady-Crowe, F; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; O‘Donovan, P; Odhams, CA; Patch, C; Perez-Gil, D; Pereira, MB; Pullinger, J; Rahim, T; Rendon, A; Rogers, T; Savage, K; Sawant, K; Scott, RH; Siddiq, A; Sieghart, A; Smith, SC; Sosinsky, A; Stuckey, A; Tanguy, M; Thomas, ERA; Thompson, SR; Tucci, A; Walsh, E; Welland, MJ; Williams, E; Witkowska, K; Wood, SM; Galehdari, H; Ashrafzadeh, F; Sahebzamani, A; Saeidi, K; Torti, E; Elloumi, HZ; Mora, S; Palculict, TB; Yang, H; Wren, JD; Fowler, B; Joshi, M; Behra, M; Burgess, SM; Nath, SK; Hanna, MG; Kenna, M; Merritt, JL; Houlden, H; Karimiani, EG

De Pace R; Neurosciences and Cellular and Structural Biology Division, Eunice Kennedy Shriver National Institute of Child, Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Paimboeuf A; Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 83151-61355, Iran.; Department of Molecular Genetics, Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 61556-89467, Iran.; Zaki MS; Human Genetics and Genome Research Institute, Clinical Genetics Department, National Research Centre, Cairo 12622, Egypt.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 61357-33184, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 61357-33184, Iran.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 83151-61355, Iran.; Zeighami J; Department of Molecular Genetics, Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 61556-89467, Iran.; Williamson CD; Neurosciences and Cellular and Structural Biology Division, Eunice Kennedy Shriver National Institute of Child, Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Fleming E; Department of Genetics, Children's Mercy Kansas City, Kansas City, MO 64108, USA.; Zhou D; Department of Genetics, Children's Mercy Kansas City, Kansas City, MO 64108, USA.; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.; Gannon JL; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO 64108, USA.; Thiffault I; Department of Genetics, Children's Mercy Kansas City, Kansas City, MO 64108, USA.; Department of Pathology, Children's Mercy Kansas City, Kansas City, MO 64108, USA.; Roze E; Sorbonne Université, CNRS, INSERM, Institut du Cerveau (ICM), and Assistance Publique-Hôpitaux de Paris, Department of Neurology, Hôpital de la Pitié-Salpêtrière, Paris 75013, France.; Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham NG5 1PB, UK.; Zifarelli G; CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, 18055 Rostock, Germany.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.; Patten SA; Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Départementde Neurosciences, Université de Montréal, Montréal, QC H3C 3J7, Canada.; Farrow E; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA.; Bonifacino JS; Neurosciences and Cellular and Structural Biology Division, Eunice Kennedy Shriver National Institute of Child, Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Weerts, M.J.A.; Lanko, K.; Guzman-Vega, F.J.; Jackson, A.; Ramakrishnan, R.; Cardona-Londono, K.J.; Pena-Guerra, K.A.; Bever, Y. van; Paassen, B.W. van; Kievit, A.; Slegtenhorst, M. van; Allen, N.M.; Kehoe, C.M.; Robinson, H.K.; Pang, L.; Banu, S.H.; Zaman, M.; Efthymiou, S.; Houlden, H.; Jarvela, I.; Lauronen, L.; Maatta, T.; Schrauwen, I.; Leal, S.M.; Ruivenkamp, C.A.L.; Barge-Schaapveld, D.Q.C.M.; Peeters-Scholte, C.M.P.C.D.; Galehdari, H.; Mazaheri, N.; Sisodiya, S.M.; Harrison, V.; Sun, A.; Thies, J.; Pedroza, L.A.; Lara-Taranchenko, Y.; Chinn, I.K.; Lupski, J.R.; Garza-Flores, A.; McGlothlin, J.; Yang, L.; Huang, S.P.; Wang, X.D.; Jewett, T.; Rosso, G.; Lin, X.; Mohammed, S.; Merritt, J.L.; Mirzaa, G.M.; Timms, A.E.; Scheck, J.; Elting, M.W.; Polstra, A.M.; Schenck, L.; Ruzhnikov, M.R.Z.; Vetro, A.; Montomoli, M.; Guerrini, R.; Koboldt, D.C.; Mosher, T.M.; Pastore, M.T.; McBride, K.L.; Peng, J.; Pan, Z.; Willemsen, M.; Koning, S.; Turnpenny, P.D.; Vries, B.B.A. de; Gilissen, C.; Pfundt, R.; Lees, M.; Braddock, S.R.; Klemp, K.C.; Vansenne, F.; Gijn, M.E. van; Quindipan, C.; Deardorff, M.A.; Hamm, J.A.; Putnam, A.M.; Baud, R.; Walsh, L.; Lynch, S.A.; Baptista, J.; Person, R.E.; Monaghan, K.G.; Crunk, A.; Keller-Ramey, J.; Reich, A.; Elloumi, H.Z.; Alders, M.; Kerkhof, J.; McConkey, H.; Haghshenas, S.; Maroofian, R.; Sadikovic, B.; Banka, S.; Arold, S.T.; Barakat, T.S.; Genomics England Res

Redfield SE; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, 300 Longwood Avenue, BCH-3129, Boston, MA, 02115, USA.; De-la-Torre P; Mass Eye and Ear, Eaton Peabody Laboratories, Boston, MA, USA.; Department of Otolaryngology Head and Neck Surgery, Harvard Medical School, 25 Shattuck Street, Boston, MA, 02115, USA.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Wang H; Precision Medicine Center, Academy of Medical Science, Zhengzhou University, No. 40 Daxuebei Road, Zhengzhou, 450052, China.; Khan H; School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, 54590, Pakistan.; Morris T; Mass Eye and Ear, Eaton Peabody Laboratories, Boston, MA, USA.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Karimi M; Khuzestan Cochlear Implantation Center (Tabassom), Ahvaz, Iran.; Kenna MA; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, 300 Longwood Avenue, BCH-3129, Boston, MA, 02115, USA.; Mass Eye and Ear, Eaton Peabody Laboratories, Boston, MA, USA.; Seo GH; 3Billion, Inc., Seoul, South Korea.; Xu H; Precision Medicine Center, Academy of Medical Science, Zhengzhou University, No. 40 Daxuebei Road, Zhengzhou, 450052, China.; Lu W; Department of Otorhinolaryngology, The First Affiliated Hospital of Zhengzhou University, No. 1 Jian-She Road, Zhengzhou, 450052, China.; Naz S; School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, 54590, Pakistan.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Indzhykulian AA; Mass Eye and Ear, Eaton Peabody Laboratories, Boston, MA, USA. Artur_Indzhykulian@hms.harvard.edu.; Department of Otolaryngology Head and Neck Surgery, Harvard Medical School, 25 Shattuck Street, Boston, MA, 02115, USA. Artur_Indzhykulian@hms.harvard.edu.; Shearer AE; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, 300 Longwood Avenue, BCH-3129, Boston, MA, 02115, USA. Eliot.Shearer@childrens.harvard.edu.; Department of Otolaryngology Head and Neck Surgery, Harvard Medical School, 25 Shattuck Street, Boston, MA, 02115, USA. Eliot.Shearer@childrens.harvard.edu.; Vona B; Institute of Human Genetics, University Medical Center Göttingen, 37073, Göttingen, Germany. barbara.vona@med.uni-goettingen.de.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075, Göttingen, Germany. barbara.vona@med.uni-goettingen.de.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Almousa H; Department of Biology, Concordia University, Montreal, Quebec H4B1R6, Canada.; Lewis SA; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Nordlie SH; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Pagnozzi A; CSIRO Health and Biosecurity, The Australian e-Health Research Centre, Brisbane 4029, Australia.; Magee H; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Heim JA; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Cornejo P; Pediatric Neuroradiology Division, Pediatric Radiology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA.; Department of Radiology, Mayo Clinic, Scottsdale, AZ 85259, USA.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12622, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo 4460015, Egypt.; Anwar N; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Maqbool S; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Rahman F; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Neilson DE; Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Vemuri A; Department of Pathology, University of Chicago, Chicago, IL 60637, USA.; Jin SC; Department of Genetics, Washington University, St.Louis, MO 63110, USA.; Yang XR; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, S.W. Calgary, AB T2N 4N1, Canada.; Heidari A; Reference Laboratory, Qazvin Medical University, Qazvin 34148-33245, Iran.; van Gassen K; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands.; Trimouille A; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, CHU Bordeaux-Hôpital Pellegrin, Place Amélie Raba Léon, 33000 Bordeaux, France.; Thauvin-Robinet C; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, 21078 Dijon, France.; Liu J; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Bruel AL; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, 21078 Dijon, France.; Tomoum H; Department of Pediatrics, Ain Shams University, Cairo 11516, Egypt.; Shata MO; Department of Pediatrics, Ain Shams University, Cairo 11516, Egypt.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 13944-91388, Iran.; Neuroscience Research Center, Mashhad University of Medical Science, Mashhad 13944-91388, Iran.; Karimiani EG; Molecular and Clinical Sciences Institute, St.George's, University of London, London SW17 0RE, UK.; Yeşil G; Istanbul Medical Faculty Department of Medical Genetics, Istanbul University, Istanbul 34452, Turkey.; Lingappa L; Pediatric Neurology, Rainbow Children Hospital, Hyderabad 500034, India.; Baruah D; Pediatric Neurology, Rainbow Children Hospital, Hyderabad 500034, India.; Ebrahimzadeh F; Department of Internal Medicine, Mashhad University of Medical Sciences, Mashhad 13944-91388, Iran.; Van-Gils J; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands.; Faivre L; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 6155889467, Iran.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135733118, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 6155889467, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135733118, Iran.; Mohammad R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; van der Smagt J; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands.; Qari A; Medical Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.; Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON M6J 1H4, Canada.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, S.W. Calgary, AB T2N 4N1, Canada.; Dursun A; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey.; Özgül RK; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey.; Akar HT; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey.; Bilguvar K; Department of Medical Genetics, Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey.; Department of Neurosurgery and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.; Mignot C; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, 75012 Paris, France.; Keren B; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France.; Raveli C; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, 75012 Paris, France.; Burglen L; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, APHP. Sorbonne Université, Hôpital Trousseau, 75012 Paris, France.; Afenjar A; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, APHP. Sorbonne Université, Hôpital Trousseau, 75012 Paris, France.; Kaat LD; Department of Clinical Genetics, Erasmus Medical Center, 3000 Rotterdam, The Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus Medical Center, 3000 Rotterdam, The Netherlands.; Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Padilla-Lopez S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Sacher M; Department of Biology, Concordia University, Montreal, Quebec H4B1R6, Canada.; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec H3A0C7, Canada.; Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Kaiyrzhanov R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Ferla M; Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN UK.; Tortora D; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Saadi SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Abdullah U; University Institute of Biochemistry and Biotechnology, PMAS Arid Agriculture University, 46300 Rawalpindi, Pakistan.; Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Yeşil G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Alavi S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Al Shamsi AM; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE.; Tajsharghi H; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, SE-541 28 Skovde, Sweden.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt.; Saadi NW; College of Medicine, University of Baghdad, 10071 Baghdad, Iraq.; Children Welfare Teaching Hospital, 10071 Baghdad, Iraq.; Al Mutairi F; Genetics and Precision Medicine department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.; Alabdi L; Department of Zoology, College of Science, King Saud University, 11421 Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 12713 Riyadh, Saudi Arabia.; Beetz C; Centogene GmbH, 18055 Rostock, Germany.; Ali Z; Department of Cellular and Molecular Medicine, WJC PANUM, University of Copenhagen, DK-1165 Copenhagen, Denmark.; Centre for Biotechnology and Microbiology, University of Swat, Swat 19120, Pakistan.; Toosi MB; Pediatric Neurology Department Pediatric Ward Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Isohanni P; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.; Department of Child Neurology, Children's Hospital, Paediatric Research Center, University of Helsinki and Helsinki University Hospital, 00014 Helsinki, Finland.; Muhammad J; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Centre for Regenerative Medicine and Stem Cell Research, Juma Building, Aga Khan University, Karachi 74800, Pakistan.; Khan S; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Al Shalan M; Genetics and Precision Medicine department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.; Hickey SE; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA.; Marom D; Genetics Institute and Genomic Center, Tel Aviv Sourasky Medical Center, and Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.; Elhanan E; Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center, Tel Aviv 64239, Israel.; Kurian MA; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat 13110, Kuwait.; Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.; Spaull R; Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center, Tel Aviv 64239, Israel.; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Meng L; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK.; Lalani S; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK.; Maqbool S; Developmental-Behavioural Paediatrics Department, University of Child Health Sciences & The Children's Hospital, 54000 Lahore, Pakistan.; Rahman F; Developmental-Behavioural Paediatrics Department, University of Child Health Sciences & The Children's Hospital, 54000 Lahore, Pakistan.; Seeger J; Center for Social Pediatrics and Epilepsy Outpatient Clinic Frankfurt Mitte, 60316 Frankfurt am Main, Germany.; Palculict TB; GeneDx, Gaithersburg, MD 20877, USA.; Lau T; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Murphy D; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Mencacci NE; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland.; Begemann A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland.; Akbas S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Aslanger AD; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Salpietro V; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Department of Biotechnological and Applied Clinical Sciences (DISCAB), University of L'Aquila, 67100 L'Aquila, Italy.; Yousaf H; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Ben-Shachar S; Clalit Research Institute, Clalit Health Services, 6578898 Ramat Gan, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Ejeskär K; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, SE-541 28 Skovde, Sweden.; Al Aqeel AI; Department of Pediatrics, Prince Sultan Military Medical City, 12233 Riyadh, Saudi Arabia.; American University of Beirut, 1107 2020 Beirut, Lebanon.; Alfaisal University, 11533 Riyadh, Saudi Arabia.; High FA; Division of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Harvard Medical School, Boston, MA 02115, USA.; Armstrong-Javors AE; Harvard Medical School, Boston, MA 02115, USA.; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Zahraei SM; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Diabetes Research center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Asl SN; Department of Pediatrics Endocrinology, Mashhad University of Medical Sciences, Mashhad, Iran.; Shahrooei M; Specialized Immunology Laboratory of Dr Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, 3000 Leuven, Belgium.; Zifarelli G; Centogene GmbH, 18055 Rostock, Germany.; Burglen L; Cerebellar Malformations and Congenital diseases Reference Center and Neurogenetics Lab, Department of Genetics, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, 75015 Paris, France.; Ravelli C; Pediatric Neurology Department, Movement Disorders Center, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France.; Zschocke J; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Schatz UA; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität Munich, 81675 Munich, Germany.; Ghavideldarestani M; Hull York Medical School, Hull HU6 7RX, UK.; Kamel WA; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Neurology, Faculty of Medicine, Beni-Suef University, 62521 Beni Suef, Egypt.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.; Laboratory for the Genetics of Cognition, Department of Human Genetics, KU Leuven-University of Leuven, 3000 Leuven, Belgium.; Hackenberg A; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, 8032 Zürich, Switzerland.; Taylor JC; Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN UK.; Al-Gazali L; Departments of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE.; Bauer P; Centogene GmbH, 18055 Rostock, Germany.; Gleeson JJ; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Chung WK; Boston Children's Hospital and Harvard Medical School Boston, MA 02115, USA.; Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, 74800 Karachi, Pakistan.; Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Dolatshahi B; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Dorostghoal M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Biotechnology and Bioscience Research Center, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Hemadi M; Fertility, Infertility and Perinatology Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Publisher: Yazd Research & Clinical Center for Infertility in collaboration with Iranian Society for Reproductive Medicine Country of Publication: Iran NLM ID: 101679102 Publication Model: eCollection Cited Medium: Print ISSN: 2476-4108 (Print) Linking ISSN: 24763772 NLM ISO Abbreviation: Int J Reprod Biomed Subsets: PubMed not MEDLINE

Mozafarian N; Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.; Hashemipour M; Metabolic Liver Disease Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.; Maracy MR; Department of Biostatistics and Epidemiology, School of Public Health, Isfahan University of Medical Sciences, Isfahan, Iran.; Environment Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.; Galehdari H; Department of Dermatology, Skin Diseases and Leishmaniasis Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.; Kelishadi R; Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.

Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE