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1
Partial 'alfa'-sarcoglycan ('alfa'-SG) deficiency associated with the retention of the SG complex in a LGMD2D family
Partial 'alfa'-sarcoglycan ('alfa'-SG) deficiency associated with the retention of the SG complex in a LGMD2D family
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Partial 'alfa'-sarcoglycan ('alfa'-SG) deficiency associated with the retention of the SG complex in a LGMD2D family

Mariz Vainzof E S Moreira; M Canovas; Oscar T Suzuki; Rita de Cássia M Pavanello; Maria Rita Passos-Bueno; Mayana Zatz; American Society of Human Genetics (49. 1999 San Francisco)

American Journal of Human Genetics Baltimore v. 65, n. 4, suppl., res.2815, oct. 1999

San Francisco 1999

Item não circula. Consulte sua biblioteca.(Acessar)

2
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome

Oscar T. Suzuki Andréa Laurato Sertié; Vazken M Der Kaloustian; Fernando Kok; M Carpenter; J Murray; A E Czeizel; Susana E Kliemann; Sérgio Rosemberg; M Monteiro; Bjorn Reino Olsen; Maria Rita Passos-Bueno

American Journal of Human Genetics v. 71, p. 1320-1329, 2002

Baltimore 2002

Item não circula. Consulte sua biblioteca.(Acessar)

3
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome

Oscar T. Suzuki Andréa Laurato Sertié; Vazken M Der Kaloustian; Fernando Kok; M Carpenter; J Murray; A E Czeizel; Susana E Kliemann; Sérgio Rosemberg; M Monteiro; Bjorn Reino Olsen; Maria Rita Passos-Bueno

American Journal of Human Genetics v. 71, p. 1320-1329, 2002

Baltimore 2002

Item não circula. Consulte sua biblioteca.(Acessar)

4
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy

Guilherme L. Yamamoto Wagner A. R Baratela; Tatiana F Almeida; Monize Lazar; Clara L Afonso; Maria K Oyamada; Lisa Suzuki; Luiz A. N Oliveira; Ester Silveira Ramos; Chong Ae Kim; Maria Rita Passos-Bueno; Débora Romeo Bertola

American Journal of Human Genetics Cambridge v. 94, n. 1, p. 113-119, 2014

Cambridge 2014

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2466445 Estantes Deslizantes )(Acessar)

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Deste Autor:

  1. Passos-Bueno, M
  2. Suzuki, O
  3. Kok, F
  4. Sertié, A
  5. Rosemberg, S

Neste Assunto:

  1. Doenças Retinianas
  2. Cegueira
  3. Degeneração Retiniana
  4. Oftalmologia (Métodos)
  5. Genética Médica

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

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