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Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome.
Elsaid, M F; Chalhoub, N; Ben-Omran, T; Kamel, H; Al Mureikhi, M; Ibrahim, K; Elizabeth Ross, M; Abdel Aleem, A K.
Afiliação
  • Elsaid MF; Department of Neuropediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Chalhoub N; Neurogenetics Lab, Weill Cornell Medicine, Doha, Qatar.
  • Ben-Omran T; Department of Clinical and Metabolic Genetics, Hamad Medical Corporation, Doha, Qatar.
  • Kamel H; Department of Radiology, Hamad Medical Corporation, Doha, Qatar.
  • Al Mureikhi M; Department of Clinical and Metabolic Genetics, Hamad Medical Corporation, Doha, Qatar.
  • Ibrahim K; Department of Neuropediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Elizabeth Ross M; BMRI Center for Neurogenetics and Department of Neurology, Weill Cornell Medicine, NY, New York.
  • Abdel Aleem AK; Neurogenetics Lab, Weill Cornell Medicine, Doha, Qatar.
Clin Genet ; 93(2): 387-391, 2018 02.
Article em En | MEDLINE | ID: mdl-28787085
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Proteínas de Transporte / Deficiências do Desenvolvimento / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies / Guideline Limite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Proteínas de Transporte / Deficiências do Desenvolvimento / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies / Guideline Limite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article