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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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Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extra pyramidal SyndromeALAZAMI, Anas M ; AL-SAIF, Amr ; 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 ; AL-SEMARI, Abdulaziz ; BOHLEGA, Saeed ; ZLITNI, Soumaya ; ALZAHRANI, Fatema ; BAVI, Prashant ; KAYA, Namik ; COLAK, Dilek ; KHALAK, HanifAmerican journal of human genetics, 2008, Vol.83 (6), p.684-691 [Periódico revisado por pares]Cambridge, MA: Cell PressTexto completo disponível |
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Material Type: Artigo
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Autosomal Recessive Juvenile Parkinsonism Maps to 6q25.2-q27 in Four Ethnic Groups: Detailed Genetic Mapping of the Linked RegionJones, Alison C. ; Yamamura, Yasuhiro ; Almasy, Laura ; Bohlega, Saeed ; Elibol, Bülent ; Hubble, Jean ; Kuzuhara, Shigeki ; Uchida, Masao ; Yanagi, Tsutomu ; Weeks, Daniel E. ; Nygaard, Torbjoern G.American journal of human genetics, 1998-07, Vol.63 (1), p.80-87 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Lafora Progressive Myoclonus Epilepsy: Narrowing the Chromosome 6q24 Locus by Recombinations and HomozygositiesSainz, Jesus ; Minassian, Berge A. ; Serratosa, Jose M. ; Gee, Manyee N. ; Sakamoto, Lise M. ; Iranmanesh, Reza ; Bohlega, Saeed ; Baumann, Robert J. ; Ryan, Steve ; Sparkes, Robert S. ; Delgado-Escueta, Antonio V.American journal of human genetics, 1997-11, Vol.61 (5), p.1205-1209 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |