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Material Type: Artigo
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Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal SyndromeAlazami, Anas M. ; Al-Saif, Amr ; Al-Semari, Abdulaziz ; Bohlega, Saeed ; Zlitni, Soumaya ; Alzahrani, Fatema ; Bavi, Prashant ; Kaya, Namik ; Colak, Dilek ; Khalak, Hanif ; Baltus, Andy ; Peterlin, Borut ; Danda, Sumita ; Bhatia, Kailash P. ; Schneider, Susanne A. ; Sakati, Nadia ; Walsh, Christopher A. ; Al-Mohanna, Futwan ; Meyer, Brian ; Alkuraya, Fowzan S.American journal of human genetics, 2008-12, Vol.83 (6), p.684-691 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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T313M PINK1 Mutation in an Extended Highly Consanguineous Saudi Family With Early-Onset Parkinson DiseaseChishti, Muhammad A ; Bohlega, Saeed ; Ahmed, Maqbool ; Loualich, Arslan ; Carroll, Pamela ; Sato, Christine ; St George-Hyslop, Peter ; Westaway, David ; Rogaeva, EkaterinaArchives of neurology (Chicago), 2006-10, Vol.63 (10), p.1483-1485Chicago, IL: American Medical AssociationTexto completo disponível |