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Resultados de 1 a 10 de 52  para Produção Intelectual da USP

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1
Recent insights on the genetics and epigenetics of endometriosis
Recent insights on the genetics and epigenetics of endometriosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Recent insights on the genetics and epigenetics of endometriosis

B. Borghese K. T Zondervan; M. S Abrao; C Chapron; D Vaiman

Clinical Genetics Copenhagen v. 91, n. 2, p. 254-264, 2017

Copenhagen 2017

Acesso online. A biblioteca também possui exemplares impressos.

2
Infantile sialic acid storage disease report of the first case in South America
Infantile sialic acid storage disease report of the first case in South America
Material Type:
Artigo 		Adicionar ao Meu Espaço

Infantile sialic acid storage disease report of the first case in South America

C. Y. Utagawa S. M. M Sugayama; E. M Ribeiro; D. R Bertola; E. R Baba; M. G Burin; E Lewis; J. C Coelho; A. H Fensom; M. J Marques-Dias; Claudette Hajaj Gonzales; C. A Kim; R Giugliani

Clinical Genetics v. 55, n. 5, p. 386-387, 1999

1999

Item não circula. Consulte sua biblioteca.(Acessar)

3
Ohdo syndrome report on a brazilian girl with additional findings
Ohdo syndrome report on a brazilian girl with additional findings
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Ohdo syndrome report on a brazilian girl with additional findings

Vera Lúcia Gil da Silva Lopes Maria Leine Guion-Almeida

Elmont v.51, n.4, p.268-270, Apr. 1997 Clinical Genetics

Elmont 1997

Item não circula. Consulte sua biblioteca.(Acessar)

4
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome
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Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome

P Sandrin Garcia C Macedo; Lúcia Regina Martelli; Ester Silveira Ramos; Maria Leine Guion Almeida; Antônio Richieri Costa; Geraldo Aleixo Silva Passos

Clinical genetics Copenhagen v. 61, n. 5, p. 380-383, 2002

Copenhagen 2002

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1278266 ) e outros locais(Acessar)

5
Mucopolysaccharidosis VII clinical, biochemical and molecular investigation of a Brazilian family
Mucopolysaccharidosis VII clinical, biochemical and molecular investigation of a Brazilian family
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mucopolysaccharidosis VII clinical, biochemical and molecular investigation of a Brazilian family

I. Schwartz L. R Silva; S Leistner; L. A Todeschini; M. G Burin; J. M Pina-Neto; R. M Islam; G. N Shah; W. S Sly; R Giugliani

Clinical Genetics v. 64, n. 2, p. 172-175, 2003

Copenhagen 2003

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pdc 1337784 )(Acessar)

6
A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction
A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction
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A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction

Cintia Fridman Mara Santos; Íris Ferrari; Celia Priszkulnik Koiffmann

Clinical Genetics v. 57, p. 86-87, 2000

Copenhagen 2000

Acesso online

7
Unusual clinical features in an Angleman syndrome patient with uniparental disomy due to a translocation 15q15q
Unusual clinical features in an Angleman syndrome patient with uniparental disomy due to a translocation 15q15q
Material Type:
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Unusual clinical features in an Angleman syndrome patient with uniparental disomy due to a translocation 15q15q

Cintia Fridman Monica Castro Varela; Robert D Nicholls; Celia Priszkulnik Koiffmann

Clinical Genetics v. 54, n. 4, p. 303-308, 1998

Copenhagem 1998

Item não circula. Consulte sua biblioteca.(Acessar)

8
Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype study of 75 patients
Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype study of 75 patients
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Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype study of 75 patients

M. C. Varela Fernando Kok; Nuvarte Setian; C. A Kim; Celia Priszkulnik Koiffmann

Clinical Genetics v. 67, n. 1, p. 47-52, 2005

Copenhagen 2005

Item não circula. Consulte sua biblioteca.(Acessar)

9
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly

Fernanda Sarquis Jehee D Johnson; L. G Alonso; D P Cavalcanti; E. de Sá Moreira; Fernando Lopes Alberto; Fernando Kok; C Kim; S. A Wall; Ethylin Wang Jabs; S. A Boyadjiev; A. O. M Wilkie INT; Maria Rita Passos-Bueno

Clinical Genetics v. 67, n. 6, p. 503-510, 2005

Copenhagen 2005

Item não circula. Consulte sua biblioteca.(Acessar)

10
A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21
A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21
Material Type:
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A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21

Karina Lezirovitz M. C. C Braga; Renata Soares Thiele-Aguiar; Maria Teresa Ballester de Melo Auricchio; Peter Lees Pearson; Paulo A Otto; Regina Celia Mingroni Netto

Clinical Genetics v. 75, n. 5, p. 490-493, 2009

Copenhagen 2009

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Kim, C
  2. Kok, F
  3. Bertola, D
  4. Koiffmann, C
  5. Krepischi, A

Neste Assunto:

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

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

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