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Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
Aldinger, Kimberly A; Mosca, Stephen J; Tétreault, Martine; Dempsey, Jennifer C; Ishak, Gisele E; Hartley, Taila; Phelps, Ian G; Lamont, Ryan E; O'Day, Diana R; Basel, Donald; Gripp, Karen W; Baker, Laura; Stephan, Mark J; Bernier, Francois P; Boycott, Kym M; Majewski, Jacek; Parboosingh, Jillian S; Innes, A Micheil; Doherty, Dan.
Afiliação
  • Aldinger KA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Mosca SJ; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, AB T3B 6A8, Canada.
  • Tétreault M; McGill University and Genome Quebec Innovation Center, Montreal, QC H3A 1A4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.
  • Dempsey JC; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.
  • Ishak GE; Department of Radiology, Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Hartley T; Care4Rare, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Phelps IG; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.
  • Lamont RE; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, AB T3B 6A8, Canada.
  • O'Day DR; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.
  • Basel D; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53201, USA.
  • Gripp KW; Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
  • Baker L; Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
  • Stephan MJ; Department of Pediatrics, Madigan Army Medical Center, Tacoma, WA 98431, USA.
  • Bernier FP; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, AB T3B 6A8, Canada.
  • Boycott KM; Care4Rare, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Majewski J; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.
  • Parboosingh JS; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, AB T3B 6A8, Canada.
  • Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, AB T3B 6A8, Canada. Electronic address: micheil.innes@albertahealthservices.ca.
  • Doherty D; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address: ddoher@uw.edu.
Am J Hum Genet ; 95(2): 227-34, 2014 Aug 07.
Article em En | MEDLINE | ID: mdl-25105227
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article