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Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Oh, Rachel Youjin; Deshwar, Ashish R; Marwaha, Ashish; Sabha, Nesrin; Tropak, Michael; Hou, Huayun; Yuki, Kyoko E; Wilson, Michael D; Rump, Patrick; Lunsing, Roelineke; Elserafy, Noha; Chung, Clara W T; Hewson, Stacy; Klein-Rodewald, Tanja; Calzada-Wack, Julia; Sanz-Moreno, Adrián; Kraiger, Markus; Marschall, Susan; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin; Dowling, James; Schulze, Andreas.
Affiliation
  • Oh RY; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
  • Marwaha A; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.
  • Sabha N; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
  • Tropak M; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
  • Hou H; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
  • Yuki KE; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
  • Wilson MD; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
  • Rump P; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Lunsing R; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Elserafy N; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia.
  • Chung CWT; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.
  • Hewson S; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Klein-Rodewald T; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany.
  • Calzada-Wack J; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany.
  • Sanz-Moreno A; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany.
  • Kraiger M; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany.
  • Marschall S; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany.
  • Fuchs H; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany.
  • Gailus-Durner V; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany.
  • Hrabe de Angelis M; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany; G
  • Dowling J; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Schulze A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada; Departments of Paediatrics and Biochemistry, University of Toronto, Toronto, Ontario, Canada. Electroni
Genet Med ; 24(11): 2399-2407, 2022 11.
Article in En | MEDLINE | ID: mdl-36083289
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Hydrocephalus / Intellectual Disability / Microcephaly Limits: Animals / Female / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Hydrocephalus / Intellectual Disability / Microcephaly Limits: Animals / Female / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: