Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Zahir FR"'
Autor:
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Feb; Vol. 25 (2), pp. 100004.
Autor:
Zahir FR; Irfa'a Foundation, 5063 North Service Road, Burlington, ON, L7L 5H6 Canada.; Departent of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1 Canada.
Publikováno v:
Epigenomics [Epigenomics] 2022 Dec; Vol. 14 (24), pp. 1593-1608. Date of Electronic Publication: 2023 Mar 09.
Autor:
Zahir FR; Irfa'a Foundation, Burlington, ON L7L 5H6, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Publikováno v:
Journal of personalized medicine [J Pers Med] 2022 Aug 19; Vol. 12 (8). Date of Electronic Publication: 2022 Aug 19.
Autor:
van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Joosten M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, The Netherlands., Alby C; Department of Histo-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France; National Institute of Health and Medical Research (INSERM), University of Paris, Imagine Institute, Paris, France., Attié-Bitach T; Department of Histo-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France; National Institute of Health and Medical Research (INSERM), University of Paris, Imagine Institute, Paris, France., Gilmore K; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina School of Medicine, Chapel Hill, NC., Dubourg C; Department of Molecular Genetics and Genomics, Rennes University Hospital Center (CHU), Rennes, France., Fradin M; Department of Clinical Genetics, Centre de Référence Maladies Rares Anomalies du Développement, CHU de Rennes, Rennes, France., Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA., Kurtz-Nelson EC; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA., Ahlers KP; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA., Arts P; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia., Ashfaq M; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX., Baban A; Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Scientific Institute for Research, Hospitalization and Healthcare, Rome, Italy., van den Born M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, The Netherlands., Borrie S; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX., Busa T; Service de Génétique Médicale, Hôpital de la Timone, APHM, Marseille, France; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France., Byrne A; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia; Australian Genomics, Parkville, Victoria, Australia., Carriero M; Medical Genetics, University of Siena, Siena, Italy., Cesario C; Medical Genetics Lab, Bambino Gesù Children's Hospital and Research Institute, Scientific Institute for Research, Hospitalization and Healthcare, Rome, Italy., Chong K; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Dempsey JC; Department of Pediatrics, University of Washington, Seattle, WA., Diderich KEM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, The Netherlands., Doherty D; Department of Pediatrics, University of Washington, Seattle, WA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA., Farholt S; Department of Children and Adolescents, University Hospital Rigshospitalet, Copenhagen, Denmark., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Gorokhova S; Service de Génétique Médicale, Hôpital de la Timone, APHM, Marseille, France; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France; Aix Marseille University, INSERM, Marseille Medical Genetics, U 1251, Marseille, France., Govaerts LCP; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, The Netherlands., Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Pediatrics and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Hickey SE; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH., Lefebvre M; Inserm UMR 1231 GAD, Genetics of Developmental Anomalies, F21000 Dijon, France; Functional Unit of Fœtal Pathology, Pathological Anatomy Department, CHR Orleans, Orleans, France., Mari F; Medical Genetics, University of Siena, Siena, Italy., Martinovic J; Department of Histo-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France; Unit of Fetal Pathology, Antoine Beclere Hospital, AP-HP, Clamart, France., Northrup H; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX., O'Leary M; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA., Parbhoo K; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH., Patrier S; Department of Pathology, CHU Charles Nicolle, Rouen, France., Popp B; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Santos-Simarro F; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Hospital La Paz Institute for Health Research, Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Stoltenburg C; Department of Neuropaediatrics, Charité - Berlin University of Medicine, Berlin, Germany., Thauvin-Robinet C; Inserm UMR 1231 GAD, Genetics of Developmental Anomalies, F21000 Dijon, France; Reference Center for Rare Diseases, « Intellectual Disabilities from rare causes », CHU Dijon Bourgogne, F21000 Dijon, France., Thompson E; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia., Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Zahir FR; Department of Medical Genetics, University of British Columbia, Children's and Women's Hospital, Vancouver, British Columbia, Canada., Scott HS; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia; Australian Genomics, Parkville, Victoria, Australia; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Earl RK; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA; Howard Hughes Medical Institute, University of Washington, Seattle, WA., Vora NL; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina School of Medicine, Chapel Hill, NC., Wilnai Y; Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Giordano JL; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Vagelos Medical Center, New York, NY., Wapner RJ; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Vagelos Medical Center, New York, NY., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX., Haak MC; Department of Obstetrics and Fetal Medicine, Leiden University Medical Center, Leiden, Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: santen@lumc.nl.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Aug; Vol. 24 (8), pp. 1753-1760. Date of Electronic Publication: 2022 May 18.
Autor:
Mubarak G; Research Institute, Sidra Medicine, Doha, Qatar., Zahir FR; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Publikováno v:
Journal of personalized medicine [J Pers Med] 2022 Feb 01; Vol. 12 (2). Date of Electronic Publication: 2022 Feb 01.
Autor:
Zahir FR; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Publikováno v:
Journal of personalized medicine [J Pers Med] 2021 Dec 12; Vol. 11 (12). Date of Electronic Publication: 2021 Dec 12.
Autor:
Zahir FR; Department of Medical Genetics, University of British Colombia, Vancouver, V6H 3N1, BC, Canada.
Publikováno v:
Epigenomics [Epigenomics] 2021 Sep; Vol. 13 (17), pp. 1341-1345. Date of Electronic Publication: 2021 Sep 23.
Autor:
Yasin H; Life Science, Hamad Bin Khalifa University, Doha, QAT., Stowe R; Psychiatry and Neurology, University of British Columbia, Vancouver, CAN., Wong CK; Medical Genetics, University of British Columbia, Vancouver, CAN., Jithesh PV; Life Science, Hamad Bin Khalifa University, Doha, QAT., Zahir FR; Medical Genetics, University of British Columbia, Vancouver, CAN.
Publikováno v:
Cureus [Cureus] 2020 Nov 19; Vol. 12 (11), pp. e11571. Date of Electronic Publication: 2020 Nov 19.
Autor:
Bastaki KN; Hamad Bin Khalifa University, Doha, Qatar., Alwan S; University of British Columbia, Vancouver, BC, Canada., Zahir FR; University of British Columbia, Vancouver, BC, Canada. farahz@bcchr.ca.
Publikováno v:
Advances in neurobiology [Adv Neurobiol] 2020; Vol. 24, pp. 143-162.
Autor:
Mak CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Doherty D; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Lin AE; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA., Vegas N; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Cho MT; GeneDx, Gaithersburg, MD, USA., Viot G; Gynécologie Obstétrique, Hôpital Cochin, Hôpitaux Universitaires Paris Centre (HUPC), Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France., Dimartino C; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Weisfeld-Adams JD; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Li C; McMaster University Medical Center, Hamilton, Ontario, Canada., Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Troyer C; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA., Kant SG; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands., Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Ishak GE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Radiology, University of Washington, Seattle, WA, USA., Leung G; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Barone Pritchard A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Yang S; GeneDx, Gaithersburg, MD, USA., Bend EG; Greenwood Genetic Center, Greenwood, SC, USA.; PreventionGenetics, Marshfield, WI, USA., Filippini F; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Roadhouse C; McMaster University Medical Center, Hamilton, Ontario, Canada., Lebrun N; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France., Mehaffey MG; Department of Pediatrics, University of Washington, Seattle, WA, USA., Martin PM; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Apple B; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Puk O; Praxis für Humangenetik Tübingen, Tübingen, Germany., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands., Henderson LB; GeneDx, Gaithersburg, MD, USA., McGowan R; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Pei S; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Zahir FR; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Yu M; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Gibson WT; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Seman A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Steeves M; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA., Murrell JR; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Luettgen S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Francisco E; eviCore healthcare, Bluffton, SC, USA., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany., Amlie-Wolf L; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA., Kaindl AM; Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Department of Pediatric Neurology and Center for Chronically Sick Children, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany., Wilson WG; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA., Halbach S; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Petach Tikva, Israel., Lev-El N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Vissers LELM; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, HB Nijmegen, The Netherlands., Radtke K; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA., Chelly J; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA., Reid RR; Department of Surgery, Section of Plastic Surgery, University of Chicago, Chicago, IL, USA., Devriendt K; Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA., McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Powis Z; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA., Bienvenu T; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, 75014 Paris, France., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, 3052, Australia., Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Waggoner D; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Gripp KW; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, UK., Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Lyonnet S; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Cormier-Daire V; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, 75015 Paris, France., Viskochil D; Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA., Hoffman TL; Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA., Amiel J; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Gordon CT; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Publikováno v:
Brain : a journal of neurology [Brain] 2020 Jan 01; Vol. 143 (1), pp. 55-68.