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Refinado por: Biblioteca: FM - Fac. Medicina remover assunto: Genética Molecular remover
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1
Molecular genetics of primary congenital glaucoma in Brazil
Molecular genetics of primary congenital glaucoma in Brazil
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular genetics of primary congenital glaucoma in Brazil

Ivaylo R. Stoilov Vital Paulino Costa; Jose P. C Vasconcellos; Monica B Melo; Alberto J Betinjane; Jose C. E Carani; Ernst V Oltrogge; Mansoor Sarfarazi

Investigative Ophthalmology & Visual Science Brookline v. 43, n. 6, june, p. 1820-1827, 2002

Brookline 2002

Localização: FM - Fac. Medicina    (BCSEP 2002 68 )(Acessar)

2
Molecular genetics of primary congenital glaucoma in Brazil
Molecular genetics of primary congenital glaucoma in Brazil
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular genetics of primary congenital glaucoma in Brazil

Ivaylo R. Stoilov Vital Paulino Costa; Jose P. C Vasconcellos; Monica B Melo; Alberto J Betinjane; Jose C. E Carani; Ernst V Oltrogge; Mansoor Sarfarazi

Investigative Ophthalmology & Visual Science Brookline v. 43, n. 6, june, p. 1820-1827, 2002

Brookline 2002

Localização: FM - Fac. Medicina    (BCSEP 2002 68 )(Acessar)

3
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein

Adam Chamberlin Robert Huether; Aline Z Machado; Michael Groden; Hsiao-Mei Liu; Kinnari Upadhyay; O Vivian; Nathalia L Gomes; Antonio M Lerario; Berenice Bilharinho de Mendonça

Human molecular genetics v. 28, n. 10, p. 1620-1628, 2019

Oxford 2019

Acesso online. A biblioteca também possui exemplares impressos.

4
Five haplotypes account for fifty-five percent of ATM mutations in brazilian patients with ataxia telangiectasia seven new mutations
Five haplotypes account for fifty-five percent of ATM mutations in brazilian patients with ataxia telangiectasia seven new mutations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Five haplotypes account for fifty-five percent of ATM mutations in brazilian patients with ataxia telangiectasia seven new mutations

Gabriela Coutinho Midori Mitui; Catarina Campbell; Beatriz T. Costa Carvalho; Shareef Nahas; Xia Sun; Yong Huo; Chih-hung Lai; Yvonne Thorstenson; Robert Tanouye; Salmo Raskin; Chong Ae Kim; Juan Llerena Junior; Richard A Gatti

American Journal of Medical Genetics Salt Lake City v. 126A, n. 1, p. 33-40, april 2004

Salt Lake City 2004

Localização: FM - Fac. Medicina    (FM BCBIB )(Acessar)

5
Five haplotypes account for fifty-five percent of ATM mutations in brazilian patients with ataxia telangiectasia seven new mutations
Five haplotypes account for fifty-five percent of ATM mutations in brazilian patients with ataxia telangiectasia seven new mutations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Five haplotypes account for fifty-five percent of ATM mutations in brazilian patients with ataxia telangiectasia seven new mutations

Gabriela Coutinho Midori Mitui; Catarina Campbell; Beatriz T. Costa Carvalho; Shareef Nahas; Xia Sun; Yong Huo; Chih-hung Lai; Yvonne Thorstenson; Robert Tanouye; Salmo Raskin; Chong Ae Kim; Juan Llerena Junior; Richard A Gatti

American Journal of Medical Genetics Salt Lake City v. 126A, n. 1, p. 33-40, april 2004

Salt Lake City 2004

Localização: FM - Fac. Medicina    (FM BCBIB )(Acessar)

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