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1
Sporadic mutations in TCOF1 arise both in maternal and paternal chromosomes and are not related to advanced parental age
Sporadic mutations in TCOF1 arise both in maternal and paternal chromosomes and are not related to advanced parental age
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Sporadic mutations in TCOF1 arise both in maternal and paternal chromosomes and are not related to advanced parental age

Alessandra 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. 2001

Chicago 2001

Item não circula. Consulte sua biblioteca.(Acessar)

2
Mitochondrial mutation A1555G (12rRNA) and connexion 2635delG mutation are frequent causes of deafness in Brazil
Mitochondrial mutation A1555G (12rRNA) and connexion 2635delG mutation are frequent causes of deafness in Brazil
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Mitochondrial mutation A1555G (12rRNA) and connexion 2635delG mutation are frequent causes of deafness in Brazil

Regina 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. 2001

Chicago 2001

Item não circula. Consulte sua biblioteca.(Acessar)

3
Screening of SPINK1 mutations indicate further heterogeneity for chronic pancreatitis
Screening of SPINK1 mutations indicate further heterogeneity for chronic pancreatitis
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Screening of SPINK1 mutations indicate further heterogeneity for chronic pancreatitis

A 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. 2002

Baltimore 2002

Item não circula. Consulte sua biblioteca.(Acessar)

4
Novel mutations and genotype:phenotype correlation in Charlot-Marie-Tooth type 1B (CMT1B)
Novel mutations and genotype:phenotype correlation in Charlot-Marie-Tooth type 1B (CMT1B)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

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, 2003

Baltimore 2003

Item não circula. Consulte sua biblioteca.(Acessar)

5
Muscle proteins alteration in patients with mutations in the Fukutin-Related protein gene
Muscle proteins alteration in patients with mutations in the Fukutin-Related protein gene
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Muscle proteins alteration in patients with mutations in the Fukutin-Related protein gene

L. 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, 2003

2003

Item não circula. Consulte sua biblioteca.(Acessar)

6
Mutation rates of the abnormal hemoglobin genes
Mutation rates of the abnormal hemoglobin genes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutation rates of the abnormal hemoglobin genes

Oswaldo Frota-Pessoa Anita Wajntal

American Journal of Human Genetics v. 15, n. 2, p. 123-125, jun. 1963

Baltimore 1963

Item não circula. Consulte sua biblioteca.(Acessar)

7
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

Agnes 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 Zatz

American Journal of Human Genetics v. 75, n. 5, p. 822-831, 2004

Baltimore 2004

Acesso online

8
Red-green color vision impairment in Duchenne Muscular Dystrophy
Red-green color vision impairment in Duchenne Muscular Dystrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Red-green color vision impairment in Duchenne Muscular Dystrophy

Marcelo Fernandes da Costa André Gustavo Fernandes Oliveira; Claudia Feitosa-Santana; Mayana Zatz; Dora Selma Fix Ventura

American Journal of Human Genetics v. 80, n. 6, p. 1064-1075, 2007

Cambridge 2007

Item não circula. Consulte sua biblioteca.(Acessar)

9
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
Material Type:
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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 Genes

Claudia 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 Lupski

American Journal of Human Genetics v. 95, p. 565-578, 2014

Cambridge 2014

Item não circula. Consulte sua biblioteca.(Acessar)

10
Mutation rates of the abnormal hemoglobin genes
Mutation rates of the abnormal hemoglobin genes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutation rates of the abnormal hemoglobin genes

Oswaldo Frota-Pessoa Anita Wajntal

American Journal of Human Genetics v. 15, n. 2, p. 123-125, jun. 1963

Baltimore 1963

Item não circula. Consulte sua biblioteca.(Acessar)

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