Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Al-Muhaizea MA"'
Autor:
Al-Muhaizea MA (AUTHOR), Prayson RA (AUTHOR)
Publikováno v:
Archives of Pathology & Laboratory Medicine. Jun2003, Vol. 127 Issue 6, pe273-4. 1p.
Akademický článek
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Autor:
AlSaman AS; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Al Ghamdi F; Neuroscience Center, King Fahad Specialist Hospital, Dammam, Saudi Arabia., Bamaga AK; Neurology Division, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia., AlShaikh N; Department of Pediatrics, Ministry of National Guard Health Affairs, Jeddah, Saudi Arabia.; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.; King Abdullah International Medical Research Center, Jeddah, Saudi Arabia., Al Muqbil M; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Division of Pediatric Neurology, King Abdullah Specialized Children's Hospital, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Muthaffar O; Neurology Division, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia., Bashiri FA; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Ali B; King Saud Medical City, Riyadh, Saudi Arabia., Mulayim A; PTC Therapeutics, Zug, Switzerland., Heider E; PTC Therapeutics, Zug, Switzerland., Alshahrani AA; King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Al Muhaizea MA; Neuroscience Centre, King Faisal Specialist Hospital and Research Centre, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Publikováno v:
Frontiers in pediatrics [Front Pediatr] 2022 Sep 30; Vol. 10, pp. 1020059. Date of Electronic Publication: 2022 Sep 30 (Print Publication: 2022).
Autor:
Nimer RM; Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan., Sumaily KM; Clinical Biochemistry Unit, Pathology Department, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia.; Clinical Biochemistry Unit, Laboratory Medicine, King Saud University Medical City, King Saud University, Riyadh 11461, Saudi Arabia., Almuslat A; Metabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital and Research Center (KFSH-RC), Zahrawi Street, Al Maather, Riyadh 11211, Saudi Arabia.; Department of Biochemistry and Molecular Medicine, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia., Abdel Jabar M; Metabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital and Research Center (KFSH-RC), Zahrawi Street, Al Maather, Riyadh 11211, Saudi Arabia., Sabi EM; Clinical Biochemistry Unit, Pathology Department, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia.; Clinical Biochemistry Unit, Laboratory Medicine, King Saud University Medical City, King Saud University, Riyadh 11461, Saudi Arabia., Al-Muhaizea MA; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia., Abdel Rahman AM; Metabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital and Research Center (KFSH-RC), Zahrawi Street, Al Maather, Riyadh 11211, Saudi Arabia.; Department of Biochemistry and Molecular Medicine, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.
Publikováno v:
Molecules (Basel, Switzerland) [Molecules] 2022 Jun 07; Vol. 27 (12). Date of Electronic Publication: 2022 Jun 07.
Autor:
Shamseldin HE, Shaheen R, Ewida N, Bubshait DK, Alkuraya H, Almardawi E, Howaidi A, Sabr Y, Abdalla EM, Alfaifi AY, Mohammed Alghamdi J, Alsagheir A, Alfares A, Morsy H, Hussein MH, Al-Muhaizea MA, Shagrani M, Al Sabban E, Salih MA, Meriki N, Khan R, Almugbel M, Qari A, Tulba M, Mahnashi M, Alhazmi K, Alsalamah AK, Nowilaty SR, Alhashem A, Hashem M, Abdulwahab F, Ibrahim N, Alshidi T, AlObeid E, Alenazi MM, Alzaidan H, Rahbeeni Z, Al-Owain M, Sogaty S, Zain Seidahmed M, Alkuraya FS
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 966.
Autor:
Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; UCL Queen Square Institute of Neurology, University College London, London, UK., Wortmann SB; Amalia Children's Hospital, Radboud University Nijmegen, Nijmegen, The Netherlands.; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Kaya N; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Stellingwerff MD; Department of Child Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Pistorio A; Clinical Epidemiology and Biostatistics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Glamuzina E; Adult and Paediatric National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand., van Karnebeek CD; Departments of Pediatrics and Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands., Skrypnyk C; Department of Molecular Medicine, Al-Jawhara Centre for Molecular Medicine, Arabian Gulf University, Manama, Kingdom of Bahrain., Iwanicka-Pronicka K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, Warsaw, Poland., Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Tort F; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica iGenètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Sheidley B; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusettes, USA.; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusettes, USA., Poduri A; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusettes, USA.; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusettes, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusettes, USA., Jayakar P; Nicklaus Children's Hospital, Miami, Florida, USA., Jayakar A; Nicklaus Children's Hospital, Miami, Florida, USA., Upadia J; Tulane University School of Medicine, New Orleans, Louisiana, USA., Walano N; Tulane University School of Medicine, New Orleans, Louisiana, USA., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Prokisch H; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Aldhalaan H; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London, UK.; Innovative Medical Research Center, Islamic Azad University, Mashhad Branch, Mashhad, Iran., Yildiz Y; Pediatric Metabolic Diseases Clinic, Dr. Sami Ulus Training and Research Hospital for Maternity and Children, Ankara, Turkey., Ceylan AC; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey., Santiago-Sim T; GeneDx, Gaithersburg, Maryland, USA., Dameron A; GeneDx, Gaithersburg, Maryland, USA., Yang H; GeneDx, Gaithersburg, Maryland, USA., Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran., Akhondian J; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Department of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, Iran., Mirzadeh HS; Department of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, Iran., Maqbool S; Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan., Farid A; Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan., Al-Muhaizea MA; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alshwameen MO; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Aldowsari L; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alyousef A; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., AlMass R; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., AlHargan A; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alwadei AH; Neurosciences Department, King Fahad Medical City, Riyadh, Saudi Arabia., AlRasheed MM; Department of Clinical Pharmacy, King Saud University, Riyadh, Saudi Arabia., Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Kingdom of Saudi Arabia., Alqudairy H; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Khan S; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Lines MA; Medical Genetics, Department of Pediatrics, Alberta Children's Hospital, Calgary, Canada., García Cazorla MÁ; Inborn Errors of Metabolism Unit, Hospital Sant Joan de Déu, Barcelona, Spain., Ribes A; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica iGenètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Morava E; Department of Clinical Genomics, Laboratory of Medicine and Pathology, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Bibi F; Institute of Biochemistry and Biotechnology, Pir Mehar Ali Shah Arid Agriculture University, Rawalpindi, Pakistan., Haider S; Izzat Ali Shah Hospital, Lalarukh Wah Cantt, Rawalpindi, Pakistan., Ferla MP; NIHR Oxford BRC Genomic Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Taylor JC; NIHR Oxford BRC Genomic Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Alsaif HS; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Firdous A; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Hashem M; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Shashkin C; International University of Postgraduate Education, Almaty, Kazakhstan., Koneev K; Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, Kazakhstan., Kaiyrzhanov R; UCL Queen Square Institute of Neurology, University College London, London, UK., Efthymiou S; UCL Queen Square Institute of Neurology, University College London, London, UK., Genomics QS; UCL Queen Square Institute of Neurology, University College London, London, UK., Schmitt-Mechelke T; Department of Neuropaediatrics, Children's Hospital, Cantonal Hospital, Lucerne, Switzerland., Ziegler A; Zentrum für Kinder und Jugendmedizin Heidelberg, Sektion Neuropädiatrie und Stoffwechselmedizin, Universitätsklinikum Heidelberg, Heidelberg, Germany., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Alkuraya FS; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, Alfaisal University, Riyadh, Saudi Arabia., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Gleeson JG; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, California, USA., Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Bierau J; Laboratory of Biochemical Genetics, Department of Clinical Genetics, Maastricht University Hospital, Maastricht, The Netherlands., van der Knaap MS; Department of Child Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands., Maroofian R; UCL Queen Square Institute of Neurology, University College London, London, UK., Houlden H; UCL Queen Square Institute of Neurology, University College London, London, UK.
Publikováno v:
Human mutation [Hum Mutat] 2022 Mar; Vol. 43 (3), pp. 403-419. Date of Electronic Publication: 2022 Jan 12.
Autor:
Al-Muhaizea MA; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia., Aldeeb H; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia., Almass R; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia., Jaber H; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia., Binhumaid F; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia., Alquait L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia., Abukhalid M; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia., Aldhalaan H; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia., Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; King Abdulaziz City for Science and Technology, Riyadh, Kingdom of Saudi Arabia., Al-Bakheet A; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia., Aldosary M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia., Alkofide H; College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia., Alrasheed MM; College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia., Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia., Kaya N; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
Publikováno v:
Annals of human genetics [Ann Hum Genet] 2022 Jan; Vol. 86 (1), pp. 34-44. Date of Electronic Publication: 2021 Sep 28.
Autor:
Sanderson LE; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; KACST-BWH/Harvard Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia., Almass R; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Al-Ahmadi N; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Department of Biology, Imam Abdulrahman bin Faisal University, Dammam 34212, Kingdom of Saudi Arabia., Najafi M; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany., Al-Muhaizea MA; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Alzaidan H; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., AlDhalaan H; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Perenthaler E; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., van der Linde HC; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Kühn NA; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Antony D; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany., Owaidah TM; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Raskin S; Positivo University Medical School, Curitiba, Parana, 81280-330, Brazil., Vieira LGDR; Universidade da Região de Joinville, Pós-Graduação em Saúde e Meio Ambiente, Joinville, Santa Catarina, 89219-710., Mombach R; Núcleo de Assistência Integral ao Paciente Especial, Prefeitura de Joinvile, Joinvile, Santa Catarina, 89202-450, Brazil., Ahangari N; Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, 9177899191, Mashhad, Iran., Silveira TRD; CENTOGENE GmbH, 18055 Rostock., Ameziane N; CENTOGENE GmbH, 18055 Rostock., Rolfs A; CENTOGENE GmbH, 18055 Rostock.; Medical University of Rostock, 18051 Rostock., Alharbi A; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Sabbagh RM; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., AlAhmadi K; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Alawam B; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Ghebeh H; Stem Cell and Tissue Re-engineering Program, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., AlHargan A; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Albader AA; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Binhumaid FS; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Goljan E; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Mustafa OM; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Aldosary M; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., AlBakheet A; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Alyounes B; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Almutairi F; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Al-Odaib A; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Aksoy DB; Gaziosmanpasa University, School of Medicine, Neurology Dept. Tokat, 8FJH+CW Tokat, Merkez/Tokat, Turkey., Basak AN; Koc University, School of Medicine, Suna and Inan Kirac Foundation, NDAL- KUTTAM, Davutpasa cad. No.4, 34010, Zeytinburnu, İstanbul, Turkey., Palvadeau R; Koc University, School of Medicine, Suna and Inan Kirac Foundation, NDAL- KUTTAM, Davutpasa cad. No.4, 34010, Zeytinburnu, İstanbul, Turkey., Trabzuni D; Department of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 3BG, UK., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, and Baylor Genetics Laboratories, Houston, TX, USA., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, 9G58 + 69 Mashhad, Razavi Khorasan Province, Iran., Meyer BF; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Kingdom of Saudi Arabia.; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Kingdom of Saudi Arabia., Karakas B; Department of Molecular Oncology, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Al-Mohanna F; Department of Cell Biology, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Arold ST; Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Kingdom of Saudi Arabia.; Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, 34090 Montpellier, France., Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Bertoli-Avella AM; CENTOGENE GmbH, 18055 Rostock., Schmidts M; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Kaya N; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Kingdom of Saudi Arabia.
Publikováno v:
Brain : a journal of neurology [Brain] 2021 Apr 12; Vol. 144 (3), pp. 769-780.
Autor:
AlFaris HS; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Division of Pediatric Neurology, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Elhissi G; Department of Pediatrics, King Khaled University Hospital, King Saud University, Riyadh, Saudi Arabia., Chedrawi A; Division of Pediatric Neurology, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Al-Muhaizea MA; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Division of Pediatric Neurology, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Publikováno v:
International journal of pediatrics & adolescent medicine [Int J Pediatr Adolesc Med] 2021 Mar; Vol. 8 (1), pp. 52-54. Date of Electronic Publication: 2020 Jan 17.
Autor:
Bamaga AK; Neurology Division, Pediatric Department, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi Arabia.; Pediatric Department, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia., Alghamdi F; King Fahad Specialist Hospital, Dammam, Saudi Arabia., Alshaikh N; Pediatric Department, Ministry of National Guard Health Affairs, Jeddah, Saudi Arabia.; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.; King Abdullah International Medical Research Center, Jeddah, Saudi Arabia., Altwaijri W; Pediatric Department, King Saud Bin Abdulaziz University, Riyadh, Saudi Arabia.; Pediatric Department, King Abdullah Specialized Children Hospital, Riyadh, Saudi Arabia., Bashiri FA; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Division of Neurology, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Hundallah K; Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Abukhaled M; Department of Neuroscience, King Faisal Specialist Hospital and Research Centre, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Muthaffar OY; Neurology Division, Pediatric Department, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi Arabia.; Pediatric Department, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia., Al-Mehmadi S; Department of Pediatric Neurology, Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia., Jamaly TA; Children Health Center, International Medical Center, Jeddah, Saudi Arabia., Al-Muhaizea MA; Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Al-Saman A; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
Publikováno v:
Frontiers in pediatrics [Front Pediatr] 2021 Feb 17; Vol. 9, pp. 629549. Date of Electronic Publication: 2021 Feb 17 (Print Publication: 2021).