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Resultados de 1 a 10 de 79  para Produção Intelectual da USP

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Refinado por: Nome da Publicação: Journal of Medical Genetics remover idioma: Inglês remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Clinical variability of the 17 p 112 duplication in cmt 1a
Clinical variability of the 17 p 112 duplication in cmt 1a
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Clinical variability of the 17 p 112 duplication in cmt 1a

Wilson Marques Júnior M B Davis; M G Sweeney; N M Wood; P K Thomas; British Human Genetics Conference (1996 New York)

Londres v.33, p.5 , 1996 Journal of Medical Genetics

Londres 1996

Item não circula. Consulte sua biblioteca.(Acessar)

2
A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
Material Type:
Artigo 		Adicionar ao Meu Espaço

A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

Eloisa S. Moreira Mariz Vainzof; Suely Kazue Nagahashi Marie; Vicenzo Nigro; Mayana Zatz; Maria Rita Passos-Bueno

Journal of Medical Genetics Londres v. 35, p. 951-953, 1998

Londres 1998

Item não circula. Consulte sua biblioteca.(Acessar)

3
Presence of the apert canonical S252W FGFR2 mutation in a patient without severe syndactyly
Presence of the apert canonical S252W FGFR2 mutation in a patient without severe syndactyly
Material Type:
Artigo 		Adicionar ao Meu Espaço

Presence of the apert canonical S252W FGFR2 mutation in a patient without severe syndactyly

Maria Rita Passos-Bueno Antonio Richieri-Costa; Andréa L Sertié; Alexander Kneppers

Journal of Medical Genetics v. 35, p. 677-679, 1998

London 1998

Item não circula. Consulte sua biblioteca.(Acessar)

4
Mutations in the ret proto-oncogene and the von hippel-lindau disease tumour supressor gene in sporadic and syndromic phaeochromocytomas
Mutations in the ret proto-oncogene and the von hippel-lindau disease tumour supressor gene in sporadic and syndromic phaeochromocytomas
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in the ret proto-oncogene and the von hippel-lindau disease tumour supressor gene in sporadic and syndromic phaeochromocytomas

C Eng P A Crossey; L M Mulligan; C S Healey; C Houghton; A Prowse; S L Chew; P L M Dahia; J L H Oriordan; S. P. A Toledo (Sérgio Pereira de Almeida); D P Smith; E R Maher

London v.32, n.12, p.934-7, dec. 1995 Journal of Medical Genetics

London 1995

Item não circula. Consulte sua biblioteca.(Acessar)

5
Fraxf in a patient with chromosome 8 duplication
Fraxf in a patient with chromosome 8 duplication
Material Type:
Artigo 		Adicionar ao Meu Espaço

Fraxf in a patient with chromosome 8 duplication

Angela M Vianna-Morgante Regina Celia Mingroni Netto; A C C Barbosa; Paulo A Otto; Carla Rosenberg

London v.33, n.7 , p.611-4, 1996 Journal of Medical Genetics

London 1996

Item não circula. Consulte sua biblioteca.(Acessar)

6
CTG repeat length in muscle from patiens affected whith myotonic dystrophy (DM)
CTG repeat length in muscle from patiens affected whith myotonic dystrophy (DM)
Material Type:
Artigo 		Adicionar ao Meu Espaço

CTG repeat length in muscle from patiens affected whith myotonic dystrophy (DM)

Mayana Zatz Maria Rita Passos-Bueno; Antonia Maria Pereira Cerqueira; Mariz Vainzof

Journal of Medical Genetics v. 33, n. 2, p. 173, 1996

1996

Item não circula. Consulte sua biblioteca.(Acessar)

7
Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation
Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation

Celia Priszkulnik Koiffmann Aron Judka Diament; D. H Souza; Anita Wajntal

London v.27, n.7 , p.462-4, 1990 Journal of Medical Genetics

London 1990

Item não circula. Consulte sua biblioteca.(Acessar)

8
Screening of delections in the dystrophin gene with the cdna probes cf23a, cf56a, and cf115
Screening of delections in the dystrophin gene with the cdna probes cf23a, cf56a, and cf115
Material Type:
Artigo 		Adicionar ao Meu Espaço

Screening of delections in the dystrophin gene with the cdna probes cf23a, cf56a, and cf115

Maria Rita Passos-Bueno D Rapaport; D Love; T Flint; E R Bortolini; Mayana Zatz; K E Davies

London v.27, n.3 , p.145-50, 1990 Journal of Medical Genetics

London 1990

Item não circula. Consulte sua biblioteca.(Acessar)

9
Model to estimate the expression of the dystrophin gene in muscle from female becker muscular dystrophy carriers
Model to estimate the expression of the dystrophin gene in muscle from female becker muscular dystrophy carriers
Material Type:
Artigo 		Adicionar ao Meu Espaço

Model to estimate the expression of the dystrophin gene in muscle from female becker muscular dystrophy carriers

Mariz Vainzof Maria Rita Passos-Bueno; R C M Pavanello; R Schreiber; Mayana Zatz

London v.29, n.7 , p.476-9, jul. 1992 Journal of Medical Genetics

London 1992

Item não circula. Consulte sua biblioteca.(Acessar)

10
High frequency of the lebanese allele of the ldlr gene among brazilian patients with familial hypercholesterolemia
High frequency of the lebanese allele of the ldlr gene among brazilian patients with familial hypercholesterolemia
Material Type:
Artigo 		Adicionar ao Meu Espaço

High frequency of the lebanese allele of the ldlr gene among brazilian patients with familial hypercholesterolemia

Mauro Silvério Figueiredo J E Santos; F L Alberto; M A Zago

London v.29, p.813-5, 1992 Journal of Medical Genetics

London 1992

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 842206 Estantes Deslizantes )(Acessar)

Resultados de 1 a 10 de 79  para Produção Intelectual da USP

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Deste Autor:

  1. Passos-Bueno, M
  2. Zatz, M
  3. Vianna-Morgante, A
  4. Vainzof, M
  5. Rosenberg, C

Neste Assunto:

  1. Genética Médica
  2. Doenças Genéticas
  3. Mutação Genética
  4. Distrofia Muscular
  5. Genética

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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