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1
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

Koji Suzuki Diane Hu; Tania Bustos; Joel Zlotogora; Antonio Richieri-Costa; Jill A Helms; Richard A Spritz

Nature Genetics v. 25, p. 427-430, Aug. 2000

New York 2000

Item não circula. Consulte sua biblioteca.(Acessar)

2
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

Koji Suzuki Diane Hu; Tania Bustos; Joel Zlotogora; Antonio Richieri-Costa; Jill A Helms; Richard A Spritz

Nature Genetics v. 25, p. 427-430, Aug. 2000

New York 2000

Item não circula. Consulte sua biblioteca.(Acessar)

3
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]

E. S. Moreira Mariz Vainzof; Oscar T Suzuki; Rita de Cássia M Pavanello; Mayana Zatz; Maria Rita Passos-Bueno

Journal of Medical Genetics v. 40, p. e12, 2003

London 2003

Item não circula. Consulte sua biblioteca.(Acessar)

4
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]

E. S. Moreira Mariz Vainzof; Oscar T Suzuki; Rita de Cássia M Pavanello; Mayana Zatz; Maria Rita Passos-Bueno

Journal of Medical Genetics v. 40, p. e12, 2003

London 2003

Item não circula. Consulte sua biblioteca.(Acessar)

5
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome

Oscar Suzuki Érika Kague; Kelly Bagatini; Hongmin Tu; Ritva Heljasvaara; Lorenza Carvalhaes; Elisandra Gava; Gisele de Oliveira; Paulo Godoi; Glaucius Oliva; Gregory Kitten; Taina Pihlajaniemi; Maria Rita Passos-Bueno

Molecular Vision Atlanta v. 15, n. 82, p. 801-809, Apr. 2009

Atlanta 2009

Acesso online. A biblioteca também possui exemplares impressos.

6
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome

Oscar Suzuki Érika Kague; Kelly Bagatini; Hongmin Tu; Ritva Heljasvaara; Lorenza Carvalhaes; Elisandra Gava; Gisele de Oliveira; Paulo Godoi; Glaucius Oliva; Gregory Kitten; Taina Pihlajaniemi; Maria Rita Passos-Bueno

Molecular Vision Atlanta v. 15, n. 82, p. 801-809, Apr. 2009

Atlanta 2009

Acesso online. A biblioteca também possui exemplares impressos.

7
Rubinstein-taybi sindrome: a 23 years-old female with a large deletion on exon 12 of CBP gene
Rubinstein-taybi sindrome: a 23 years-old female with a large deletion on exon 12 of CBP gene
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Rubinstein-taybi sindrome: a 23 years-old female with a large deletion on exon 12 of CBP gene

K T Suzuki S M M Sugayama; Lídia Yamamoto; Thelma Suely Okay; M Carneiro; L C Torres; Simpósio "Avanços em Pesquisas Médicas dos Laboratórios de Investigação Médica do Hospital das Clínicas da FMUSP" (4. 2010 São Paulo, SP); Symposium "Advances in Medical Research of the Medical Investigation Laboratories of Hospital das Clínicas da Faculdade de Medicina da USP" (4. 2010 São Paulo, SP)

Clinics São Paulo v. 65, supl.6, p. S76, res. 88, 2010

São Paulo 2010

Localização: FM - Fac. Medicina    (BCBIB 2010 ) e outros locais(Acessar)

8
New CBP mutations in Brazilian patients with Rubinstein–Taybi syndrome [Carta]
New CBP mutations in Brazilian patients with Rubinstein–Taybi syndrome [Carta]
Material Type:
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New CBP mutations in Brazilian patients with Rubinstein–Taybi syndrome [Carta]

K. T. Suzuki L. C Torres; S. M. M Sugayama; B. da Costa Aguiar Alves; C. A Moreira-Filho; M Carneiro-Sampaio

Clinical Genetics Copenhagen v. 83, n. 3, p. 291-292, 2013

Copenhagen 2013

Acesso online. A biblioteca também possui exemplares impressos.

9
Variant intestinal-cell kinase in juvenile myoclonic epilepsy
Variant intestinal-cell kinase in juvenile myoclonic epilepsy
Material Type:
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Variant intestinal-cell kinase in juvenile myoclonic epilepsy

J N Bailey L Nijs; D Bai; T Suzuki; H Miyamoto; M Tanaka; C Patterson; Y C Lin; M T Medina; M E Alonso; J M Serratosa; R M Durón; V H Nguyen; J E Wight; I E Martínez-Juárez; A Ochoa; A Jara-Prado; Laura Guilhoto; Y Molina; E M Yacubian; M López-Ruiz; Y Inoue; S Kaneko; S Hirose; M Osawa; H Oguni; S Fujimoto; T M Grisar; J M Stern; K Yamakawa; B Lakaye; A V Delgado-Escueta

New England Journal of Medicine Boston v. 378, n. 11, p. 1018-1028, mar. 2018

Boston 2018

Acesso online. A biblioteca também possui exemplares impressos.

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Deste Autor:

  1. Suzuki, O
  2. Suzuki, K
  3. Passos-Bueno, M
  4. Helms, J
  5. Tu, H

Neste Assunto:

  1. Genes
  2. Neoplasias (Crescimento E Desenvolvimento)
  3. Diagnóstico (Técnicas)
  4. Genética (Estudo)
  5. Fissura Lábiopalatina

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

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