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Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.
Jouan, Loubna; Ouled Amar Bencheikh, Bouchra; Daoud, Hussein; Dionne-Laporte, Alexandre; Dobrzeniecka, Sylvia; Spiegelman, Dan; Rochefort, Daniel; Hince, Pascale; Szuto, Anna; Lassonde, Maryse; Barbelanne, Marine; Tsang, William Y; Dion, Patrick A; Théoret, Hugo; Rouleau, Guy A.
Afiliação
  • Jouan L; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Québec, Canada.
  • Ouled Amar Bencheikh B; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Québec, Canada.
  • Daoud H; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Québec, Canada.
  • Dionne-Laporte A; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Québec, Canada.
  • Dobrzeniecka S; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Québec, Canada.
  • Spiegelman D; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Québec, Canada.
  • Rochefort D; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Québec, Canada.
  • Hince P; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Québec, Canada.
  • Szuto A; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Québec, Canada.
  • Lassonde M; Department of Psychology, Université de Montréal, Montréal, Québec, Canada.
  • Barbelanne M; CHU Sainte-Justine Research Center, Montréal, Québec, Canada.
  • Tsang WY; Department of Pathology and Cell Biology, Faculty of Medicine, Université de Montréal, Montréal, Québec, Canada.
  • Dion PA; Institut de recherches cliniques de Montréal, Montréal, Québec, Canada.
  • Théoret H; Department of Pathology and Cell Biology, Faculty of Medicine, Université de Montréal, Montréal, Québec, Canada.
  • Rouleau GA; Institut de recherches cliniques de Montréal, Montréal, Québec, Canada.
Eur J Hum Genet ; 24(4): 607-10, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26197979
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Peptídeos e Proteínas de Sinalização Intracelular / Agenesia do Corpo Caloso / Exoma / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Peptídeos e Proteínas de Sinalização Intracelular / Agenesia do Corpo Caloso / Exoma / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article