부산대학교 도서관

Accogli, Andrea; Zaki, Maha S; Al-Owain, Mohammed; Otaif, Mansour Y; Jackson, Adam; Argilli, Emanuela; Chandler, Kate E; De Goede, Christian GEL; Cora, Tülün; Alvi, Javeria Raza; Eslahi, Atieh; Asl Mohajeri, Mahsa Sadat; Ashtiani, Setareh; Au, PY Billie; Scocchia, Alicia; Alakurtti, Kirsi; Pagnamenta, Alistair T; Toosi, Mehran Beiraghi; Ghayoor Karimiani, Ehsan; Mojarrad, Majid; Arab, Fatemeh; Duymuş, Fahrettin; Scantlebury, Morris H; Yeşil, Gözde; Rosenfeld, Jill Anne; Türkyılmaz, Ayberk; Sağer, Safiye Güneş; Sultan, Tipu; Ashrafzadeh, Farah; Zahra, Tatheer; Rahman, Fatima; Maqbool, Shazia; Abdel-Hamid, Mohamed S; Issa, Mahmoud; Efthymiou, Stephanie; Bauer, Peter; Zifarelli, Giovanni; Salpietro, Vincenzo; Al-Hassnan, Zuhair; Banka, Siddharth; Sherr, Elliot H; Gleeson, Joseph G; Striano, Pasquale; Houlden, Henry; Severino, Mariasavina; Maroofian, Reza

Nakamura Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.; Shimada IS; Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Fujimoto M; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.; Sato E; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.; Takase H; Core Laboratory, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.; Aoki S; Department of Pediatrics, Jichi Medical University, Tochigi 3290498, Japan.; Miyauchi A; Department of Pediatrics, Jichi Medical University, Tochigi 3290498, Japan.; Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 2360004, Japan.; Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 2360004, Japan.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama 2360004, Japan.; Arioka Y; Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Nagoya 4668550, Japan.; Honda M; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.; Laboratory of Molecular and Cellular Physiology, Graduate School of Integrated Sciences for Life, Hiroshima University, Hiroshima 7398526, Japan.; Higashi T; Laboratory of Microenvironmental and Metabolic Health Sciences, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 1138655, Japan.; Miya F; Center for Medical Genetics, Keio University School of Medicine, Tokyo, 1608582, Japan.; Okubo Y; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 9893126, Japan.; Ogawa I; Department of Clinical Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya 4678603, Japan.; Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1516745811, Iran.; Alijanpour S; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1516745811, Iran.; Ahmadabadi F; Pediatric Neurology Department, Faculty of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran 1546815514, Iran.; Herkenrath P; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50937, Germany.; Dafsari HS; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50937, Germany.; Max-Planck-Institute for Biology of Ageing, Cologne 50931, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne 50931, Germany.; Velmans C; Faculty of Medicine and University Hospital Cologne, Institute of Human Genetics, University of Cologne, Cologne 50931, Germany.; Al Balwi M; Department of Pathology and Laboratory Medicine, College of Medicine, KSAU-HS, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.; Vitobello A; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon 21000, France.; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, University of Burgundy, Dijon 21000, France.; Denommé-Pichon AS; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon 21000, France.; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, University of Burgundy, Dijon 21000, France.; Jeanne M; Genetics Department, University Hospital of Tours, Tours 37044, France.; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Civit A; Genetics Department, University Hospital of Tours, Tours 37044, France.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Naderi H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan 4918936316, Iran.; Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan 4918936316, Iran.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ 85004, USA.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ 85004, USA.; Carroll CJ; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London SW17 0RE, UK.; Ghayoor Karimiani E; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London SW17 0RE, UK.; Khailany RA; Department of Basic Science, Hawler Medical University, Erbil, Kurdistan Region 44001, Iraq.; Abdulqadir TA; Department of Pediatrics, College of Medicine, Hawler Medical University, Erbil, Kurdistan Region 44001, Iraq.; Ozaslan M; Department of Biology, Division of Molecular Biology and Genetics, Gaziantep University, Gaziantep 27410, Turkey.; Bauer P; Centogene GmbH, Rostock 18055, Germany.; Zifarelli G; Centogene GmbH, Rostock 18055, Germany.; Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 83151-61355, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 83151-61355, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran.; Al Alam C; Pediatrics and Pediatric Neurology, American Center for Psychiatry and Neurology, Abu Dhabi 108699, UAE.; Alvi JR; Department of Pediatric Neurology, the Children's Hospital and the University of Child Health Sciences, Lahore 54600, Pakistan.; Sultan T; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Pope SAS; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 9893126, Japan.; Matsunaga T; Department of Clinical Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya 4678603, Japan.; Osaka H; Department of Pediatrics, Jichi Medical University, Tochigi 3290498, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 2360004, Japan.; Ozaki N; Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Nagoya 4668550, Japan.; Ohkawa Y; Division of Transcriptomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka 8128582, Japan.; Oki S; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.; Institute of Resource Development and Analysis, Kumamoto University, Kumamoto 8600811, Japan.; Tsunoda T; Laboratory for Medical Science Mathematics, Department of Biological Sciences, School of Science, The University of Tokyo, Tokyo 113-0033, Japan.; Laboratory for Medical Science Mathematics, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo 113-0033, Japan.; Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan.; Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Taketomi Y; Laboratory of Microenvironmental and Metabolic Health Sciences, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 1138655, Japan.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Murakami M; Laboratory of Microenvironmental and Metabolic Health Sciences, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 1138655, Japan.; Kato Y; Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.; Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.

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

Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S.; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N.; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Cali, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C.; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G.; Abdel-Hamid, Mohamed S.; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Rafat, Karima; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Zand, Farhad Khadivi; Toosi, Mehran Beiraghi; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T.; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K.; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K.; Green, Rachel; Alkuraya, Fowzan S.; Jepson, James E. C.; Houlden, Henry; SYNAPS Study Grp

AMERICAN JOURNAL OF HUMAN GENETICS; JAN 4 2024, 111 1, 12p.

Maroofian R; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Sarraf P; Department of Neuromuscular Diseases, Iranian Centre of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran 1416753955, Iran.; Department of Neurology, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran 1416753955, Iran.; O'Brien TJ; Institute of Clinical Sciences, Imperial College London, London SW7 2AZ, UK.; MRC Laboratory of Medical Sciences, London W12 0HS, UK.; Kamel M; Department of Pediatrics, Neurology and Metabolic Division, Kasr Alainy Faculty of Medicine, Cairo University, Cairo 4240310, Egypt.; Cakar A; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Neuromuscular Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey.; Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK.; Lau T; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Patil SJ; Division of Medical Genetics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospital, Bangalore 560099, India.; Record CJ; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Horga A; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Essid M; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia.; Selim L; Department of Pediatrics, Neurology and Metabolic Division, Kasr Alainy Faculty of Medicine, Cairo University, Cairo 4240310, Egypt.; Benrhouma H; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia.; Ben Younes T; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia.; Zifarelli G; CENTOGENE GmbH, Rostock 18055, Germany.; Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 9DU, UK.; Bauer P; CENTOGENE GmbH, Rostock 18055, Germany.; Khundadze M; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena 07747, Germany.; Mirecki A; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena 07747, Germany.; Kamel SM; Department of Radiology, Cairo University, Cairo 12613, Egypt.; Elmonem MA; Department of Clinical and Chemical Pathology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo 12613, Egypt.; Ghayoor Karimiani E; 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 9187147578, Iran.; Jamshidi Y; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Offiah AC; Division of Clinical Medicine, School of Medicine & Population Health, University of Sheffield, Sheffield S10 2RX, UK.; Rossor AM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Youssef-Turki IB; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia.; Hübner CA; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena 07747, Germany.; Center for Rare Diseases, Jena University Hospital, Friedrich Schiller Universität, Jena 07747, Germany.; Munot P; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital NHS Trust, London WC1N 3JH, UK.; Reilly MM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Brown AEX; Institute of Clinical Sciences, Imperial College London, London SW7 2AZ, UK.; MRC Laboratory of Medical Sciences, London W12 0HS, UK.; Nagy S; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Neurology, University Hospital Basel, University of Basel, Basel 4031, Switzerland.; Houlden H; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

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

Uctepe E; Acibadem Ankara Tissue Typing Laboratory, Ankara, Türkiye.; Vona B; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany.; Esen FN; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Sonmez FM; Department of Child Neurology, Faculty of Medicine, Retired lecturer, Karadeniz Technical University, Trabzon, Türkiye.; Private Office, Ankara, Türkiye.; Smol T; Institut de Génétique Médicale, Université de Lille, ULR7364 RADEME, CHU Lille, F-59000, Lille, France.; Tümer S; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Mancılar H; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Geylan Durgun DE; Ultramar Medical Imaging Center, Ankara, Türkiye.; Boute O; Clinique de Génétique, Université de Lille, ULR7364 RADEME, CHU Lille, F-59000, Lille, France.; Moghbeli M; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Ghayoor Karimiani E; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Bakhshoodeh B; Mashhad University of Medical Sciences, Mashhad, Iran.; Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.; Yesilyurt A; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye. ahmet.yesilyurt@acibademlabmed.com.tr.; Acibadem Maslak Hospital, Istanbul, Türkiye. ahmet.yesilyurt@acibademlabmed.com.tr.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Imannezhad S; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Ghayoor Karimiani E; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Sezavar M; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Khademi GR; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Naseri M; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

Publisher: Iranian Child Neurology Society Country of Publication: Iran NLM ID: 101463836 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1735-4668 (Print) Linking ISSN: 17354668 NLM ISO Abbreviation: Iran J Child Neurol Subsets: PubMed not MEDLINE

Alipouran F; Department of Biology, Mashhad branch, Islamic Azad University, Mashhad, Iran.; Ghayoor Karimiani E; Next Generation Genetic Polyclinic, Mashhad, Iran.; Genetics and Molecular Cell Sciences Research Centre, St George's, University of London, Cranmer Terrace, London SW17 0RE, UK.; Khayatzadeh J; Department of Biology, Mashhad branch, Islamic Azad University, Mashhad, Iran.

Publisher: Varastegan Institute for Medical Sciences Country of Publication: Iran NLM ID: 101637937 Publication Model: Print Cited Medium: Print ISSN: 2322-3480 (Print) Linking ISSN: 23223480 NLM ISO Abbreviation: Rep Biochem Mol Biol Subsets: PubMed not MEDLINE

Arab F; Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.; Ahangari N; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Malek H; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Najarzadeh Torbati P; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ghayoor Karimiani E; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London, United Kingdom, Iran.

Publisher: Medknow Publications and Media Pvt. Ltd Country of Publication: India NLM ID: 101586897 Publication Model: eCollection Cited Medium: Print ISSN: 2277-9175 (Print) Linking ISSN: 22779175 NLM ISO Abbreviation: Adv Biomed Res Subsets: PubMed not MEDLINE

Musante L; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.; Faletra F; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.; Meier K; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.; Tomoum H; Department of Pediatrics, Ain Shams University, Cairo, Egypt.; Najarzadeh Torbati P; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Blair E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; North S; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Gärtner J; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.; Diegmann S; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.; Beiraghi Toosi M; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.; Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Ghayoor Karimiani E; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, London, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Murru FM; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.; Zanus C; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.; Magnolato A; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.; La Bianca M; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.; Feresin A; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.; Girotto G; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.; Gasparini P; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.; Costa P; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.; Carrozzi M; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 62, 50937, Köln, Germany.; Max-Planck-Institute for Biology of Ageing and CECAD, Cologne, Germany.; Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Pemberton JG; Section on Molecular Signal Transduction, Program for Developmental Neuroscience, Eunice Kennedy Shriver NICHD, National Institutes of Health, Bethesda, Maryland, USA.; Ferrer EA; Section on Molecular Signal Transduction, Program for Developmental Neuroscience, Eunice Kennedy Shriver NICHD, National Institutes of Health, Bethesda, Maryland, USA.; Yammine T; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.; Farra C; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.; Department of Genetics, Hotel Dieu de France Medical Center, Beirut, Lebanon.; Mohammadi MH; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran.; Ghayoor Karimiani E; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Hashemi N; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Souaid M; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.; Sabbagh S; Department of Genetics, Hotel Dieu de France Medical Center, Beirut, Lebanon.; Najarzadeh Torbati P; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Khan S; CENTOGENE GmbH, Rostock, Germany.; Roze E; CNRS, INSERM, Institut du Cerveau (ICM), Sorbonne Université, Paris, 75013, France.; DMU Neurosciences, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, 75013, France.; Moreno-De-Luca A; Department of Radiology, Diagnostic Medicine Institute, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, USA.; Bertoli-Avella AM; CENTOGENE GmbH, Rostock, Germany.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, UK.; Balla T; Section on Molecular Signal Transduction, Program for Developmental Neuroscience, Eunice Kennedy Shriver NICHD, National Institutes of Health, Bethesda, Maryland, USA.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, UK.

Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE