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Material Type: Artigo
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Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletionJaruzelska, Jadwiga ; Korcz, Aleksandra ; Wojda, Alina ; Jedrzejczak, Piotr ; Bierla, Joanna ; Surmacz, Tatiana ; Pawelczyk, Leszek ; Page, David C ; Kotecki, MaciejJournal of medical genetics, 2001-11, Vol.38 (11), p.798-802 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6Ion, A ; Crosby, A H ; Kremer, H ; Kenmochi, N ; Van Reen, M ; Fenske, C ; Van Der Burgt, I ; Brunner, H G ; Montgomery, K ; Kucherlapati, R S ; Patton, M A ; Page, C ; Mariman, E ; Jeffery, SJournal of medical genetics, 2000-11, Vol.37 (11), p.884-886 [Periódico revisado por pares]England: BMJ GroupTexto completo disponível |
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Material Type: Artigo
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Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2,DCN, EPS8, andRPL6ION, A ; CROSBY, A H ; KREMER, H ; KENMOCHI, N ; VAN REEN, M ; FENSKE, C ; VAN DER BURGT, I ; BRUNNER, H G ; MONTGOMERY, K ; KUCHERLAPATI, R S ; PATTON, M A ; PAGE, D C ; MARIMAN, E ; JEFFERY, SJournal of medical genetics, 2000-11, Vol.37 (11), p.884 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohortsSharp, A M ; Messiaen, L M ; Page, G ; Antignac, C ; Gubler, M-C ; Onuchic, L F ; Somlo, S ; Germino, G G ; Guay-Woodford, L MJournal of medical genetics, 2005-04, Vol.42 (4), p.336-349 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |