Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo de Congresso
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Sporadic mutations in TCOF1 arise both in maternal and paternal chromosomes and are not related to advanced parental ageAlessandra Splendore E. W Jabs; Maria Rita Passos-Bueno; Annual Meeting of the American Society of Human Genetics (51. 2001 San Diego)American Journal of Human Genetics Chicago v. 69, n. 4, suppl., p. 614, oct. 2001Chicago 2001Item não circula. Consulte sua biblioteca.(Acessar) |
2 |
Material Type: Artigo de Congresso
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Mitochondrial mutation A1555G (12rRNA) and connexion 2635delG mutation are frequent causes of deafness in BrazilRegina Celia Mingroni Netto Ronaldo Serafim Abreu-Silva; M. C. C Braga; Karina Lezirovitz; Valter Augusto Della Rosa; Sulene Pirana; M Spinelli; Paulo A Otto; Annual Meeting of the American Society of Human Genetics (51. 2001 San Diego)American Journal of Human Genetics Chicago v. 69, n. 4, suppl., p. 543, oct. 2001Chicago 2001Item não circula. Consulte sua biblioteca.(Acessar) |
3 |
Material Type: Artigo de Congresso
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Screening of SPINK1 mutations indicate further heterogeneity for chronic pancreatitisA L Bernardino C. B Guarita; C B Mott; M. R. A Pedroso; Marcel Cerqueira César Machado; Antônio Atílio Laudanna; C. M Tani; F. L Almeida; Mayana Zatz; Annual Meeting of the American Society of Human Genetics (52. 2002 Baltimore)American Journal of Human Genetics Baltimore v. 71, n. 4, suppl., p. 480 res.1817, oct. 2002Baltimore 2002Item não circula. Consulte sua biblioteca.(Acessar) |
4 |
Material Type: Artigo de Congresso
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Novel mutations and genotype:phenotype correlation in Charlot-Marie-Tooth type 1B (CMT1B)Kikue Terada Abe M. T Magrin; Rita de Cássia M Pavanello; Paulo Eurípedes Marchiori; Mayana Zatz; Annual Meeting of the American Society of Human Genetics (53. 2003 Los Angeles)American Journal of Human Genetics Baltimore v. 73, n. 5, suppl., p. 567, 2003Baltimore 2003Item não circula. Consulte sua biblioteca.(Acessar) |
5 |
Material Type: Artigo de Congresso
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Muscle proteins alteration in patients with mutations in the Fukutin-Related protein geneL. U. Yamamoto Marta Canovas; Rita de Cássia M Pavanello; B. L Lima; F de Paula; N Vieira; Mayana Zatz; Mariz Vainzof; Annual Meeting of the American Society of Human Genetics (53. 2003 Los Angeles)American Journal of Human Genetics Baltimore v. 73, n. 5, suppl., p. 556, 20032003Item não circula. Consulte sua biblioteca.(Acessar) |
6 |
Material Type: Artigo
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Mutation rates of the abnormal hemoglobin genesOswaldo Frota-Pessoa Anita WajntalAmerican Journal of Human Genetics v. 15, n. 2, p. 123-125, jun. 1963Baltimore 1963Item não circula. Consulte sua biblioteca.(Acessar) |
7 |
Material Type: Artigo
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A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosisAgnes Lumi Nishimura Miguel Mitne Neto; Helga Cristina Almeida da Silva; Antonio Richieri-Costa; Susan Middleton University of Edinburgh - Division of Neuroscience, Edinburgh; Duilio Cascio; Fernando Kok; João Ricardo Mendes de Oliveira; T Gillingwater; Jeanette Webb; Paul Skehel; Mayana ZatzAmerican Journal of Human Genetics v. 75, n. 5, p. 822-831, 2004Baltimore 2004Acesso online |
8 |
Material Type: Artigo
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Red-green color vision impairment in Duchenne Muscular DystrophyMarcelo Fernandes da Costa André Gustavo Fernandes Oliveira; Claudia Feitosa-Santana; Mayana Zatz; Dora Selma Fix VenturaAmerican Journal of Human Genetics v. 80, n. 6, p. 1064-1075, 2007Cambridge 2007Item não circula. Consulte sua biblioteca.(Acessar) |
9 |
Material Type: Artigo
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Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple GenesClaudia M.B. Carvalho Shivakumar Vasanth; Marwan Shinawi; Chad Russell; Melissa B Ramocki; Chester W Brown; Jesper Graakjaer; Anne-Bine Skytte; Gayle S Patel; LaDonna Immken; Kyrieckos Aleck; Cynthia Lim; Sau Wai Cheung; Carla Rosenberg; Nicholas Katsanis; James R LupskiAmerican Journal of Human Genetics v. 95, p. 565-578, 2014Cambridge 2014Item não circula. Consulte sua biblioteca.(Acessar) |
10 |
Material Type: Artigo
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Mutation rates of the abnormal hemoglobin genesOswaldo Frota-Pessoa Anita WajntalAmerican Journal of Human Genetics v. 15, n. 2, p. 123-125, jun. 1963Baltimore 1963Item não circula. Consulte sua biblioteca.(Acessar) |