Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsiesSobetzko, Diana ; Sander, Thomas ; Becker, Cord-MichaelAmerican journal of medical genetics, 2001-08, Vol.105 (6), p.534-538 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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2 |
Material Type: Artigo
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Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paragangliomaNiemann, Stephan ; Becker-Follmann, Johannes ; Nürnberg, Gudrun ; Rüschendorf, Franz ; Sieweke, Nicole ; Hügens-Penzel, Monika ; Traupe, Horst ; Wienker, Thomas F. ; Reis, André ; Müller, UlrichAmerican journal of medical genetics, 2001-01, Vol.98 (1), p.32-36New York: John Wiley & Sons, IncTexto completo disponível |
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3 |
Material Type: Artigo
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Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophyMiller, Marvin ; Boehm, Corinne ; Cotton, Matthew ; Kazazian Jr, Haig H.American journal of medical genetics, 1992-11, Vol.44 (4), p.473-476New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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4 |
Material Type: Artigo
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Absence of correlation between utrophin localization and quantity and the clinical severity in Duchenne/Becker dystrophiesVainzof, Mariz ; Passos-Bueno, Maria Rita ; Man, Nguyen Thi ; Zatz, MayanaAmerican journal of medical genetics, 1995-09, Vol.58 (4), p.305-309New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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5 |
Material Type: Artigo
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Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriersSumita, Denilce R. ; Vainzof, Mariz ; Campiotto, Simone ; Cerqueira, Antonia M. ; Cánovas, Marta ; Otto, Paulo A. ; Passos-Bueno, Maria Rita ; Zatz, MayanaAmerican journal of medical genetics, 1998-12, Vol.80 (4), p.356-361New York: John Wiley & Sons, IncTexto completo disponível |
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6 |
Material Type: Artigo
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Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctionsBeggs, Alan H. ; Hoffman, Eric P. ; Kunkel, Louis M.American journal of medical genetics, 1992-10, Vol.44 (3), p.378-381New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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7 |
Material Type: Artigo
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Genetic counseling in Becker type X-linked muscular dystrophy. I. Theoretical considerationsGrimm, T. ; Opitz, John M. ; Reynolds, James F.American journal of medical genetics, 1984-08, Vol.18 (4), p.713-718New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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8 |
Material Type: Artigo
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Mutation analysis in Duchenne and Becker muscular dystrophy patients from Bulgaria shows a peculiar distribution of breakpoints by intronTodorova, Albena ; Bronzova, Juliana ; Miorin, Marta ; Rosa, Maurizio ; Kremensky, Ivo ; Danieli, Gian AntonioAmerican journal of medical genetics, 1996-10, Vol.65 (1), p.40-43New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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9 |
Material Type: Artigo
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Becker and limb-girdle muscular dystrophies: A psychiatric and intellectual level comparative studyMelo, Marcio ; Lauriano, Valèria ; Gentil, Valentim ; Eggers, Sabine ; Del Bianco, Sidionira Santos ; Gimenez, Paulo Rogério ; Akiyama, Jeanne ; Okabaiashi, Helena ; Frota-Pessoa, Oswaldo ; Passos-Bueno, Maria Rita ; Zatz, MayanaAmerican journal of medical genetics, 1995-02, Vol.60 (1), p.33-38 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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10 |
Material Type: Artigo
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Why is the reproductive performance lower in Becker (BMD) as compared to limb girdle (LGMD) muscular dystrophy male patients?Eggers, Sabine ; Lauriano, Valèria ; Melo, Marcio ; Takata, Reinaldo Issao ; Akiyama, Jeanne ; Passos-Bueno, Maria Rita ; Gentil, Valentim ; Frota-Pessoa, Oswaldo ; Zatz, MayanaAmerican journal of medical genetics, 1995-02, Vol.60 (1), p.27-32 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |