Zobrazeno 1 - 10
of 231
pro vyhledávání: '"Skrypnyk, C."'
Autor:
Skrypnyk C; Department of Molecular Medicine, AlJawhara Center, College of Medicine and Health Sciences, Arabian Gulf University, Manama, Bahrain. cristinas@agu.edu.bh.; Genetic Disease Clinic, University Medical Center, King Abdullah Medical City, Manama, Bahrain. cristinas@agu.edu.bh., AlHarmi R; Regenerative Medicine Unit, AlJawhara Center, Arabian Gulf University, Manama, Bahrain., Mathur A; Regenerative Medicine Unit, AlJawhara Center, Arabian Gulf University, Manama, Bahrain., AlHafnawi HH; Clinical Research Center, College of Medicine and Health Sciences, Arabian Gulf University, Manama, Bahrain., Chandan Appikonda SH; Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates., Matsa LS; Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates.
Publikováno v:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2024 Oct 18; Vol. 24 (1), pp. 684. Date of Electronic Publication: 2024 Oct 18.
Autor:
Skrypnyk C; Assistant Professor, Molecular Genetics, Princess Al-Jawhara Al-Ibrahim Center for Molecular Medicine, Genetics, and Inherited Disorders and Molecular Medicine Department, College of Medicine and Medical Sciences, Arabian Gulf University, Manama, Bahrain.; Consultant Medical Geneticist, University Medical Clinics, Manama, Bahrain., AlHarmi R; Research Associate, Regenerative Medicine Unit, Arabian Gulf University, Manama, Bahrain.
Publikováno v:
Frontiers in genetics [Front Genet] 2024 May 27; Vol. 15, pp. 1400295. Date of Electronic Publication: 2024 May 27 (Print Publication: 2024).
Autor:
Abduljalil R; Department of Pediatrics, King Hamad University Hospital, Manama, Bahrain., Ben Turkia H; Department of Pediatrics, King Hamad University Hospital, Manama, Bahrain., Fakhroo A; Department of Pediatrics, King Hamad University Hospital, Manama, Bahrain., Skrypnyk C; Department of Molecular Medicine, Al-Jawhara Centre for Molecular Medicine, Arabian Gulf University, Manama, Bahrain.
Publikováno v:
Case reports in hepatology [Case Reports Hepatol] 2023 Jun 20; Vol. 2023, pp. 4514552. Date of Electronic Publication: 2023 Jun 20 (Print Publication: 2023).
Autor:
Skrypnyk C; Department of Molecular Medicine, Al-Jawhara Centre for Molecular Medicine, Arabian Gulf University, Manama, Bahrain.; Department of Medical Genetics, University Medical Center, King Abdulla Medical City, Manama, Bahrain., Husain AA; Department of Pediatrics, Bahrain Defence Force Hospital, Royal Medical Services, Riffa, Bahrain., Hassan HY; Banoon ART and Cytogenetics Centre, Bahrain Defence Force Hospital, Royal Medical Services, Riffa, Bahrain., Ahmed J; Radiology Department, University Medical Center, King Abdulla Medical City, Manama, Bahrain., Darwish A; Department of Pathology, Bahrain Defence Force Hospital, Royal Medical Services, Riffa, Bahrain., Almusalam L; Department of Pathology, Bahrain Defence Force Hospital, Royal Medical Services, Riffa, Bahrain., Ben Khalaf N; Life Sciences Department, Health Biotechnology Program, College of Graduate Studies, Arabian Gulf University, Manama, Bahrain., Al Qashar F; Department of Pediatrics, Bahrain Defence Force Hospital, Royal Medical Services, Riffa, Bahrain.
Publikováno v:
Frontiers in genetics [Front Genet] 2023 Mar 21; Vol. 14, pp. 1098102. Date of Electronic Publication: 2023 Mar 21 (Print Publication: 2023).
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:
Salvi A; Aix Marseille Univ, INSERM, MMG, Marseille, France., Skrypnyk C; Al Jawhara Center for Molecular Medicine, Department of Molecular Medicine, College of Medicine and Medical Sciences, Arabian Gulf University, Bahrain., Da Silva N; Aix Marseille Univ, INSERM, MMG, Marseille, France., Urtizberea JA; Institut de Myologie, Salpêtrière Hospital, Paris, France., Bakhiet M; Al Jawhara Center for Molecular Medicine, Department of Molecular Medicine, College of Medicine and Medical Sciences, Arabian Gulf University, Bahrain., Robert C; Aix Marseille Univ, INSERM, MMG, Marseille, France., Lévy N; Aix Marseille Univ, INSERM, MMG, Marseille, France.; AP-HM, Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France.; GIPTIS, Genetics Institute for Patients Therapies Innovation and Science, Marseille, France., Megarbané A; Institut Jérôme Lejeune, Paris, France.; Department of Human Genetics, Gilbert and Rose-Marie Ghagoury School of Medicine, Lebanese American University, Byblos, Lebanon., Delague V; Aix Marseille Univ, INSERM, MMG, Marseille, France., Bartoli M; Aix Marseille Univ, INSERM, MMG, Marseille, France.
Publikováno v:
Clinical genetics [Clin Genet] 2021 Jul; Vol. 100 (1), pp. 84-89. Date of Electronic Publication: 2021 Mar 29.
Autor:
Tariq, Zuira1 (AUTHOR) zuira.tariq@gmail.com, Abusnana, Salah1,2 (AUTHOR) salah.abusnana@uhs.ae, Mussa, Bashair M.2 (AUTHOR) bmussa@sharjah.ac.ae, Zakaria, Hala2 (AUTHOR) u21102962@sharjah.ac.ae
Publikováno v:
Diabetology & Metabolic Syndrome. 12/30/2024, Vol. 16 Issue 1, p1-17. 17p.
Autor:
Mah-Som AY; Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen's University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, Missouri., Skrypnyk C; Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen's University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, Missouri., Guerin A; Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen's University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, Missouri., Seroor Jadah RH; Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen's University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, Missouri., Vardhan VN; Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen's University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, Missouri., McKinstry RC; Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen's University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, Missouri., Shinawi MS; Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen's University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, Missouri.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2021 Jan 12; Vol. 7 (1), pp. e553. Date of Electronic Publication: 2021 Jan 12 (Print Publication: 2021).
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Autor:
van Karnebeek CDM; Departments of Pediatrics & Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centres, Amsterdam Gastro-enterology and Metabolism, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands; Department of Pediatrics / Medical Genetics, BC Children's Hospital Research Institute, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Amalia Children's Hospital, Department of Pediatrics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands. Electronic address: c.d.vankarnebeek@amsterdamumc.nl., Ramos RJ; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Wen XY; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada; Department of Medicine, Physiology and LMP & Institute of Medical Science, University of Toronto, Toronto, ON M5G 2C4, Canada., Tarailo-Graovac M; Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada., Gleeson JG; Department Neurosciences and Pediatric, Howard Hughes Medical Institute, University of California; Rady Children's Institute for Genomic Medicine, San Diego, CA 92093, USA., Skrypnyk C; Department of Molecular Medicine and Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Arabian Gulf University, Postal Code 328, Bahrain., Brand-Arzamendi K; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada., Karbassi F; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt., van der Lee R; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada., Drögemöller BI; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC V6T 1Z3, Canada; BC Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada., Koster J; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Gastro-enterology and Metabolism, 1105 AZ Amsterdam, the Netherlands., Rousseau J; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada., Campeau PM; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada., Wang Y; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada., Cao F; Department of Neuroscience & Mental Health, The Hospital for Sick Children & Department of Physiology, University of Toronto, Toronto, ON M5G 1X8, Canada., Li M; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada., Ruiter J; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Gastro-enterology and Metabolism, 1105 AZ Amsterdam, the Netherlands., Ciapaite J; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Kluijtmans LAJ; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Willemsen MAAP; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Amalia Children's Hospital, Department of Pediatrics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Jans JJ; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Ross CJ; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC V6T 1Z3, Canada., Wintjes LT; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Rodenburg RJ; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Amalia Children's Hospital, Department of Pediatrics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Huigen MCDG; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Jia Z; Department of Neuroscience & Mental Health, The Hospital for Sick Children & Department of Physiology, University of Toronto, Toronto, ON M5G 1X8, Canada., Waterham HR; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Gastro-enterology and Metabolism, 1105 AZ Amsterdam, the Netherlands., Wasserman WW; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada., Wanders RJA; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Gastro-enterology and Metabolism, 1105 AZ Amsterdam, the Netherlands., Verhoeven-Duif NM; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt., Wevers RA; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands. Electronic address: ron.wevers@radboudumc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Sep 05; Vol. 105 (3), pp. 534-548. Date of Electronic Publication: 2019 Aug 15.