부산대학교 도서관

Bakur K; Lifera Omics, Riyadh, Saudi Arabia.; Hamid H; Lifera Omics, Riyadh, Saudi Arabia.; Alhaddad B; Lifera Omics, Riyadh, Saudi Arabia.; Alfadhel M; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; King Salman Center for Disability Research, 11,614, Riyadh, Saudi Arabia.; Alhashem A; Department of Genetic and Metabolic, King Fahad Specialist Hospital, Dammam, Saudi Arabia.; Department of Genetic, SEHA Virtual Hospital, Riyadh, Saudi Arabia.; Eyaid W; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Alanzi T; Women and Children's Health Department Johns Hopkins Aramco Healthcare Center, Dhahran, Saudi Arabia.; Al Mutairi F; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; King Salman Center for Disability Research, 11,614, Riyadh, Saudi Arabia.; Alswaid A; King Saud Bin Abdulaziz University For Health Sciences, Riyadh, Saudi Arabia.; Department of Pediatrics, MC 1940, King Abdullah Specialized Children's Hospital, Riyadh, Saudi Arabia.; Ababneh F; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Al Ghamdi M; Pediatric Department, College of Medicine, King Saud University, King Saud University Medical City, College of Medicine Research Centre, Riyadh, Saudi Arabia.; Mohamed S; Department of Pediatrics, Genetics and Metabolic Division, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Faculty of Medicine, National University, Khartoum, Sudan.; Alaskar A; King Saud Bin Abdulaziz University For Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard, Riyadh, Saudi Arabia.; King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Alqahtani F; Department of Internal Medicine, College of Medicine, KSU Epidemiology and Public Health Research Chair, King Saud University, King Saud University Medical City, Riyadh, Saudi Arabia.; Alzaidan H; Department of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Al-Owain M; Department of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Genetics, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Mushiba AM; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Department of Pediatrics, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.; Alanazi R; Department of Pediatrics, King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia.; Almoallem B; Department of Ophthalmology, College of Medicine, King Saud University (KSU), Riyadh, Saudi Arabia.; Department of Ophthalmology, King Saud University Medical City (KSUMC), Riyadh, Saudi Arabia.; Alsaleh NS; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Al Tala S; Department of Pediatrics, Armed Forces Hospital SR, Khamis Mushayt, Saudi Arabia.; Alshammari M; Pediatric Department, College of Medicine, King Saud University, King Saud University Medical City, College of Medicine Research Centre, Riyadh, Saudi Arabia.; Turkistani A; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Gosadi G; Medical Genetic and Metabolic Department, Prince Mohammed bin Nasser Hospital, Jazan, Saudi Arabia.; Hakami F; King Abdullah International Medical Research Center, King Abdulaziz Medical City, Jeddah, Saudi Arabia.; Alobaid F; Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Al Rukban H; Department of Pediatrics, Genetics and Metabolic Division, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Alfaidi A; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Ba-Abbad R; Retina Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Almuqbil MA; King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard, Riyadh, Saudi Arabia.; College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Division of Pediatric Neurology, Department of Pediatrics, King Abdullah Specialist Children's Hospital (KASCH), National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia.; Al-Boukai A; Department of Radiology, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia.; Alamri AS; Prince Mohomed Bin Abdulaziz Hospital, Ministry of National Guard Health Affairs (MNG-HA), Madinah, Saudi Arabia.; Alshehri A; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Neuroscience Centre, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Sulaiman RA; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Almontasheri A; Adult Allergy and Clinical Immunology Department, King Abdulaziz Medical City, National Guard Health Affair, Ministry of National Guard, Jeddah, Saudi Arabia.; Danish E; Department of Ophthalmology, King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia.; AlSagheir A; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Aljeaid D; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Genetic Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.; Al-Awam BS; Department of Pediatrics, College of Medicine, King Fahd Hospital of the University, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.; Shawli A; King Abdullah International Medical Research Center, King Abdulaziz Medical City, Jeddah, Saudi Arabia.; Department of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital (NG), WR, Jeddah, Saudi Arabia.; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.; Al-Otaibi M; Department of Genetics, King Saud Medical City, Riyadh, Saudi Arabia.; Majdali WS; Department of Basic Medical Sciences, College of Medicine, University of Jeddah, Jeddah, Saudi Arabia.; Azher ZA; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia.; Almannai M; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Baalawi W; Lifera Omics, Riyadh, Saudi Arabia.; AlAbdi L; Department of Translational Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Benoukraf T; Lifera Omics, Riyadh, Saudi Arabia.; Division of Biomedical Sciences, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Canada.; Alkuraya FS; Lifera Omics, Riyadh, Saudi Arabia. falkuraya@liferaomics.com.sa.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. falkuraya@liferaomics.com.sa.; Department of Translational Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@liferaomics.com.sa.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Alatawi A; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Alshehri O; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Alessa A; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Al Mutairi F; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; AlSaleh N; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Eyaid W; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Alsamri A; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Faqeih E; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Mushiba A; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Saleh M; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Alotaibi M; Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia.; Tabarki B; Department of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Aljadhai YI; Department of Radiology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Katsonis P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Lichtarge O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Alkuraya FS; Lifera Omics, Riyadh, Saudi Arabia.; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Alfadhel M; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Almannai M; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.

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

Jonathan Shintaku; Wolfgang M. Pernice; Wafaa Eyaid; Jeevan B. GC; Zuben P. Brown; Marti Juanola-Falgarona; Javier Torres-Torronteras; Ewen W. Sommerville; Debby M.E.I. Hellebrekers; Emma L. Blakely; Alan Donaldson; Ingrid van de Laar; Cheng-Shiun Leu; Ramon Marti; Joachim Frank; Kurenai Tanji; David A. Koolen; Richard J. Rodenburg; Patrick F. Chinnery; H.J.M. Smeets; Gráinne S. Gorman; Penelope E. Bonnen; Robert W. Taylor; Michio Hirano

J Clin Invest
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
The Journal of Clinical Investigation, Vol 132, Iss 13 (2022)
Journal of Clinical Investigation, 132, 13

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; 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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

Wong KM; Department of Neuropediatrics, Jena University Hospital, Jena, Germany.; Center for Rare Diseases, Jena University Hospital, Jena, Germany.; School of Pharmacy, University of Wyoming, Laramie, Wyoming, USA.; Maroofian R; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, United Kingdom.; Meier K; Department of Pediatrics and Pediatric Neurology and German Center for Child and Adolescent Health (DZKJ), University Medical Center Göttingen, Georg August University Göttingen, Göttingen, Germany.; Diegmann S; Department of Pediatrics and Pediatric Neurology and German Center for Child and Adolescent Health (DZKJ), University Medical Center Göttingen, Georg August University Göttingen, Göttingen, Germany.; Tkemaladze T; Division of Clinical Genetics, Givi Zhvania Pediatric University Clinic, Tbilisi State Medical University, Tiblisi, Georgia.; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Alvi JR; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, Pakistan.; Tasharrofi B; Watson Genetic Laboratory, Tehran, Iran.; Efthymiou S; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, United Kingdom.; Munchau A; Institute of Systems Motor Science and Center for Rare Diseases, University of Lübeck, Lübeck, Germany.; Korenke GC; Section of Neonatology and Pediatric Intensive Care, Department of Pediatrics, School VI-School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.; Almontashiri N; College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Kingdom of Saudi Arabia.; Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Eyaid W; Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia.; Department of Medical Genomics, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.; Kashgari A; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.; Alotaibi M; Department of Biology, College of Science, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.; Gärtner J; Department of Pediatrics and Pediatric Neurology and German Center for Child and Adolescent Health (DZKJ), University Medical Center Göttingen, Georg August University Göttingen, Göttingen, Germany.; Huppke B; Department of Neuropediatrics, Jena University Hospital, Jena, Germany.; Center for Rare Diseases, Jena University Hospital, Jena, Germany.; Asadollahi M; Watson Genetic Laboratory, Tehran, Iran.; Chikvinidze G; Department of Child Neurology, I. Tsitsishvili Children's New Clinic, Tbilisi, Georgia.; Keramatipour M; Watson Genetic Laboratory, Tehran, Iran.; Sultan T; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, Pakistan.; Thiele H; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Nürnberg P; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Gräler MH; Department of Anesthesiology and Intensive Care Medicine, Jena University Hospital, Jena, Germany.; Center for Molecular Biomedicine (CMB), Jena University Hospital, Jena, Germany.; Center for Sepsis Control and Care (CSCC), Jena University Hospital, Jena, Germany.; Houlden H; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, United Kingdom.; Huppke P; Department of Neuropediatrics, Jena University Hospital, Jena, Germany.; Center for Rare Diseases, Jena University Hospital, Jena, Germany.

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

Almannai, Mohammed ; Felemban, Rana ; Saleh, Mohammed A. ; Faqeih, Eissa A. ; Alasmari, Ali ; AlHashem, Amal ; Mohamed, Sarar ; Sunbul, Rawda ; Al-Murshedi, Fathiya ; AlThihli, Khalid ; Eyaid, Wafaa ; Ali, Rehab ; Ben-Omran, Tawfeg ; Blau, Nenad ; El-Hattab, Ayman W. ; Alfadhel, Majid

In Pediatric Neurology July 2019 96:40-47

Alrifai MT; Neurology Division, Pediatric Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences(KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Alrumayyan Y; Neurology Division, Pediatric Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences(KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Baarmah D; Neurology Division, Pediatric Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences(KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Alrumayyan A; Neurology Division, Pediatric Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences(KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Altuwaijri W; Neurology Division, Pediatric Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences(KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; AlMuqbil M; Neurology Division, Pediatric Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences(KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Eyaid W; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences(KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Swaid A; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences(KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Almutairi F; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences(KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Alfadhel M; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences(KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.

Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Al Mutairi, Fuad ; Alfadhel, Majid ; Nashabat, Marwan ; El-Hattab, Ayman W. ; Ben-Omran, Tawfeg ; Hertecant, Jozef ; Eyaid, Wafaa ; Ali, Rehab ; Alasmari, Ali ; Kara, Majdi ; Al-Twaijri, Waleed ; Filimban, Rana ; Alshenqiti, Abduljabbar ; Al-Owain, Mohammed ; Faqeih, Eissa ; Alkuraya, Fowzan S.

In Pediatric Neurology January 2018 78:35-40

Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Rad A; Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar 009851, Iran.; Tübingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany.; Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Bertoli-Avella A; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Kallemeijn WW; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Chemical Biology and Therapeutic Discovery Lab, The Francis Crick Institute, London NW1 1AT, UK.; Godwin A; European Xenopus Resource Centre-XenMD, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Lau T; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Efthymiou S; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Karimiani EG; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London SW17 0RE, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad 1696700, Iran.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg 69120, Germany.; Normand EA; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA.; Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.; Schatz UA; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.; Institute of Human Genetics, Technical University of Munich, Munich, 81675, Germany.; Baggelaar MP; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Biomolecular Mass Spectrometry & Proteomics Group, Utrecht University, 3584 CH Utrecht, The Netherlands.; Ilyas M; Department of BioEngineering, University of Engineering and Applied Sciences, 19130 Swat, Pakistan.; Centre for Omic Sciences, Islamia College University, 25000 Peshawar, Pakistan.; Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore 54600, Pakistan.; Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore 54600, Pakistan.; Ganieva M; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.; Fowler B; Imaging Core, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Aanicai R; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Tayfun GA; Department of Pediatric Genetics, Marmara University Medical School, 34722 Istanbul, Turkey.; Al Saman A; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, 49046 Riyadh, Saudi Arabia.; Alswaid A; King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics, King Abdullah Specialized Children's Hospital, Riyadh 11461, Saudi Arabia.; Amiri N; International Collaboration on Repair Discoveries (ICORD), University of British Columbia, Vancouver, BC V5Z 1M9, Canada.; Asilova N; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.; Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.; Yeetong P; Division of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University, Bangkok 10330, Thailand.; Azam M; Pediatrics and Child Neurology, Wah Medical College, 47000 Wah Cantt, Pakistan.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd 94149-74877, Iran.; Monajemi GB; Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Tehran, Iran.; Mohammadi P; Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran 1416634793, Iran.; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran 1411944961, Iran.; Samie S; Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Tehran, Iran.; Banu SH; Department of Paediatric Neurology and Development, Dr. M.R. Khan Shishu (Children) Hospital and Institute of Child Health, Dhaka 1216, Bangladesh.; Pinto Basto J; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Bauer M; Division of Clinical Genetics and Metabolism, Nicklas Children's Hospital, Miami, FL 33155, USA.; Bauer P; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Beetz C; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Garshasbi M; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran 1411944961, Iran.; Issa AH; Department of Neurology, University of Basrah, 61004 Basrah, Iraq.; Eyaid W; Department of Genetics and Precision Medicine, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh 11426, Saudi Arabia.; Ahmed H; Department of Genetics and Precision Medicine, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh 11426, Saudi Arabia.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, 13131-99137 Mashhad, Iran.; Hassanpour K; Non-Communicable Diseases Research Center, Sabzevar University of Medical Sciences, 319 Sabzevar, Iran.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 68010, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Neurology, Texas Children's Hospital, Houston, TX 77030, USA.; Pediatric Neurology, Neurogenetics and Rare Diseases, Boys Town National Research Hospital, Boys Town, NE 68131, USA.; Ibrohimov S; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.; Abdul-Majeed BA; Molecular Pathology and Genetics, The Pioneer Molecular Pathology Lab, Baghdad 10044, Iraq.; Imdad M; Centre for Human Genetics, Hazara University, 21300 Mansehra, Pakistan.; Isrofilov M; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.; Kaiyal Q; Department of Pediatric Neurology, Clalit Health Care, 2510500 Haifa, Israel.; Khan S; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Kirmse B; SOM-Peds-Genetics, University of Mississippi Medical Center, Jackson MS, 39216, USA.; Koster J; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers location AMC, 1100 DD Amsterdam, The Netherlands.; Lourenço CM; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, 14096-160 São Paulo, Brazil.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Moldovan O; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, 1649-035 Lisboa, Portugal.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Najafi M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, 79106 Freiburg, Germany.; Genome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 68010, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Rocha ME; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Salpietro V; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Schmidts M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, 79106 Freiburg, Germany.; Genome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.; Shalata A; Pediatrics and Medical Genetics, the Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, 31048 Haifa, Israel.; Bruce Rappaport Faculty of Medicine, the Technion institution of Technology, 3200003 Haifa, Israel.; Mahroum M; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.; Talbeya JK; Pediatrics and Medical Genetics, the Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, 31048 Haifa, Israel.; Department of Radiology, The Bnai Zion Medical Center, Haifa 31048, Israel.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Vazquez D; Division of Clinical Genetics and Metabolism, Nicklas Children's Hospital, Miami, FL 33155, USA.; Vetro A; Neuroscience Department, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.; Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers location AMC, 1100 DD Amsterdam, The Netherlands.; Zaman M; Department of Paediatric Neurology and Development, Dr. M.R. Khan Shishu (Children) Hospital and Institute of Child Health, Dhaka 1216, Bangladesh.; Schrader TA; Department of Biosciences, University of Exeter, Exeter EX4 4QD, UK.; Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.; Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.; Neuroscience, Pharmacology and Child Health Department, University of Florence, 50139 Florence, Italy.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Neurology, Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Gleeson J; Department of Neurosciences, University of California, San Diego, CA 92093, USA.; Department of Neurosciences, Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.; Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, UK.; Jamshidi Y; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London SW17 0RE, UK.; Human Genetics Centre of Excellence, Novo Nordisk Research Centre Oxford, Oxford, OX3 7FZ, UK.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Vona B; Tübingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, 37075 Göttingen, Germany.; Schrader M; Department of Biosciences, University of Exeter, Exeter EX4 4QD, UK.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Guille M; European Xenopus Resource Centre-XenMD, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK.; Tate EW; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Chemical Biology and Therapeutic Discovery Lab, The Francis Crick Institute, London NW1 1AT, UK.; Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Maroofian R; Department of Neuromuscular Diseases, UCL 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

Williams, M.; Valayannopoulos, V.; Altassan, R.; Chung, W. K.; Heijboer, A. C.; Keng, W. T.; Lapatto, R.; McClean, P.; Mulder, M. F.; Tylki-Szymańska, A.; Walenkamp, M. J. E.; Alfadhel, M.; Alakeel, H.; Salomons, G. S.; Eyaid, W.; Wamelink, M. M. C.

Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. :1-11

Alaamery M; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia.; Saudi Genome Program, National Centre for Genomic Technologies, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia.; KACST-BWH Centre of Excellence for Biomedicine, Joint Centres of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia.; Massadeh S; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia.; Saudi Genome Program, National Centre for Genomic Technologies, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia.; KACST-BWH Centre of Excellence for Biomedicine, Joint Centres of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia.; Aldarwish M; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Albesher N; Saudi Genome Program, National Centre for Genomic Technologies, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia.; Faculty of Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.; Aljawini N; KACST-BWH Centre of Excellence for Biomedicine, Joint Centres of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia.; Alahmed O; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia.; Kashgari A; King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), King Abdullah International Medical Research Centre, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Radiology, King Abdullah Specialized Children's Hospital, King Abdul Aziz Medical City, Riyadh, Saudi Arabia.; Walsh CA; Division of Genetics and Genomics and Howard Hughes Medical Institute, Department of Pediatrics, Boston Children's Hospital, and Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, United States.; Eyaid W; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

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In The Journal of Pediatrics March 2014 164(3):553-559

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In The American Journal of Human Genetics 5 September 2013 93(3):471-481

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Molecular Psychiatry. 22(4):615-624

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Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(12):2071-2080

Al-Enezi E; Genetic and Metabolic Division, General Pediatric Department, Maternity and Children Hospital, Tabuk, Kingdom of Saudi Arabia. Dr.ebtesamal-enezi@hotmail.com.; Alghamdi M; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.; Al-Enezi K; Cardiology Sciences Division, General Pediatric Department, Maternity and Children Hospital, King Abdulaziz Cardiac Centre, Tabuk, Kingdom of Saudi Arabia.; AlBalwi M; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia.; Department of Medical Genomics, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.; Davies W; Division of Psychological Medicine and Clinical Neurosciences, Schools of Medicine and Psychology, Centre for Neuropsychiatric Genetics and Genomics, Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK.; Eyaid W; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.; Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia.; Department of Medical Genomics, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.

Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE; PubMed not MEDLINE

Al-Enezi E; Genetic and Metabolic Division, General Pediatric Department, Maternity and Children Hospital, Tabuk, Kingdom of Saudi Arabia. Dr.ebtesamal-enezi@hotmail.com.; Alghamdi M; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.; Al-Enezi K; Cardiology Sciences Division, General Pediatric Department, Maternity and Children Hospital, King Abdulaziz Cardiac Centre, Tabuk, Kingdom of Saudi Arabia.; AlBalwi M; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia.; Department of Medical Genomics, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.; Davies W; Division of Psychological Medicine and Clinical Neurosciences, Schools of Medicine and Psychology, Centre for Neuropsychiatric Genetics and Genomics, Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK.; Eyaid W; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.; Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia.; Department of Medical Genomics, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.

Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE

Eyaid, W.; Al Harbi, T.; Anazi, S.; Wamelink, M.M.C.; Jakobs, C.A.J.M.; Al Salammah, M.; Al Balwi, M.; Alfadhel, M.; Alkuraya, F.

Eyaid, W, Al Harbi, T, Anazi, S, Wamelink, M M C, Jakobs, C A J M, Al Salammah, M, Al Balwi, M, Alfadhel, M & Alkuraya, F 2013, 'Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype', Journal of Inherited Metabolic Disease, vol. 36, no. 6, pp. 997-1004. https://doi.org/10.1007/s10545-012-9577-8

Boyadjiev, S.A.; Hur, D.J.; Zhang, G.; Nauta, C.; Fromme, J.C.; Hamamoto, S.; Schekman, R.; Ben, J.; Chong, S.S.; Ravazzola, M.; Orci, L.; Eyaid, W.

Nature Genetics. 38:1192-1197

Ferland, RJ; Eyaid, W; Collura, RV; Tully, LD; Hill, RS; Al-Nouri, D; Al-Rumayyan, A; Topcu, M; Gascon, G; Bodell, A; Shugart, YY; Ruvolo, M; Walsh, CA

Nature Genetics. 36:1008-1013