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DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Beauregard-Lacroix, Eliane; Pacheco-Cuellar, Guillermo; Ajeawung, Norbert F; Tardif, Jessica; Dieterich, Klaus; Dabir, Tabib; Vind-Kezunovic, Dina; White, Susan M; Zadori, Denes; Castiglioni, Claudia; Tranebjærg, Lisbeth; Tørring, Pernille Mathiesen; Blair, Ed; Wisniewska, Marzena; Camurri, Maria Vittoria; van Bever, Yolande; Molidperee, Sirinart; Taylor, Juliet; Dionne-Laporte, Alexandre; Sisodiya, Sanjay M; Hennekam, Raoul C M; Campeau, Philippe M.
Afiliación
  • Beauregard-Lacroix E; Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, QC, Canada.
  • Pacheco-Cuellar G; Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, QC, Canada.
  • Ajeawung NF; CHU Sainte Justine Research Center, Université de Montréal, Montreal, QC, Canada.
  • Tardif J; Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, QC, Canada.
  • Dieterich K; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences (GIN), Grenoble, France.
  • Dabir T; Department of Genetic Medicine, Belfast City Hospital, Belfast, Northern Ireland, UK.
  • Vind-Kezunovic D; Department of Dermatology, Copenhagen University Hospital Bispebjerg, Copenhagen, NV, Denmark.
  • White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Zadori D; Department of Neurology, Interdisciplinary Excellence Center, Faculty of Medicine, Albert Szent-Györgyi Clinical Center, University of Szeged, Szeged, Hungary.
  • Castiglioni C; Department of Pediatric Neurology, Clínica Las Condes, Santiago, Chile.
  • Tranebjærg L; The Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Tørring PM; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Blair E; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Wisniewska M; Oxford Regional Genetics Service, Oxford University Hospitals, Oxford, UK.
  • Camurri MV; Department of Medical Genetics, Poznañ University of Medical Sciences, Poznañ, Poland.
  • van Bever Y; Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, QC, Canada.
  • Molidperee S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Taylor J; CHU Sainte Justine Research Center, Université de Montréal, Montreal, QC, Canada.
  • Dionne-Laporte A; Genetic Health Service New Zealand-Northern Hub, Auckland, New Zealand.
  • Sisodiya SM; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada.
  • Hennekam RCM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
  • Campeau PM; Chalfont Centre for Epilepsy, Bucks, UK.
Genet Med ; 23(1): 149-154, 2021 01.
Article en En | MEDLINE | ID: mdl-32873933
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ATPasas de Translocación de Protón Vacuolares / Epilepsia / Discapacidad Intelectual / Uñas Malformadas Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Canadá
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ATPasas de Translocación de Protón Vacuolares / Epilepsia / Discapacidad Intelectual / Uñas Malformadas Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Canadá