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Refinado por: Base de dados/Biblioteca: BMJ Journals Online Archive remover Nome da Publicação: Journal of Medical Genetics remover
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Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion
Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion
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Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion

Jaruzelska, Jadwiga ; Korcz, Aleksandra ; Wojda, Alina ; Jedrzejczak, Piotr ; Bierla, Joanna ; Surmacz, Tatiana ; Pawelczyk, Leszek ; Page, David C ; Kotecki, Maciej

Journal of medical genetics, 2001-11, Vol.38 (11), p.798-802 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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2
Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6
Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6
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Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6

Ion, 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, S

Journal of medical genetics, 2000-11, Vol.37 (11), p.884-886 [Periódico revisado por pares]

England: BMJ Group

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3
Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2,DCN, EPS8, andRPL6
Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2,DCN, EPS8, andRPL6
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Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2,DCN, EPS8, andRPL6

ION, 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, S

Journal of medical genetics, 2000-11, Vol.37 (11), p.884 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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4
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
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Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

Sharp, A M ; Messiaen, L M ; Page, G ; Antignac, C ; Gubler, M-C ; Onuchic, L F ; Somlo, S ; Germino, G G ; Guay-Woodford, L M

Journal of medical genetics, 2005-04, Vol.42 (4), p.336-349 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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