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Refinado por: assunto: Doenças Genéticas remover
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1
Cellular and molecular diagnoses of patients with Griscelli syndrome
Cellular and molecular diagnoses of patients with Griscelli syndrome
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Cellular and molecular diagnoses of patients with Griscelli syndrome

Ingrid Porpino Meschede Fabíola Attié de Castro; André Pessoa; Juliana Gurgel-Gianetti; Fernando Kok; Enilza Maria Espreáfico; Congresso da Sociedade Brasileira de Biologia Celular (13. 2006 Búzios); Simpósio Brasileiro de Matriz Extracelular (9. 2006 Búzios); International Symposium on Extracellular Matrix (4. 2006 Búzios)

Abstracts Búzios, 2006

Búzios 2006

Localização: FCFRP - Fac. Ciên. Farm. Ribeirão Preto    (pcd 1588385 ) e outros locais(Acessar)

2
Algelman syndrome difficulties in EEG pattern recognition and possible misinterpretations
Algelman syndrome difficulties in EEG pattern recognition and possible misinterpretations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Algelman syndrome difficulties in EEG pattern recognition and possible misinterpretations

Kette Dualibi Ramos Valente Joaquina Cavalcante Queiroz F de Andrade; Rosi Mary Grossmann; Fernando Kok; Cintia Fridman; Celia Priszkulnik Koiffmann; Maria Joaquina Marques-Dias

Epilepsia v. 44, n. 8, p. 1051-1063, 2003

Amsterdam 2003

Item não circula. Consulte sua biblioteca.(Acessar)

3
Leukodystrophy with premature ovarian failure Think on vanishing white matter disease (VWMD)
Leukodystrophy with premature ovarian failure Think on vanishing white matter disease (VWMD)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Leukodystrophy with premature ovarian failure Think on vanishing white matter disease (VWMD)

Fernando Freua Jacy Bezerra Parmera; Denise de Oliveira Doria; Anderson Rodrigues Brandão de Paiva; Lucia Ines Macedo-Souza; Fernando Kok

Arquivos de Neuro-Psiquiatria São Paulo v. 73, n. 1, p. 65, 2015

São Paulo 2015

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

4
Algelman syndrome difficulties in EEG pattern recognition and possible misinterpretations
Algelman syndrome difficulties in EEG pattern recognition and possible misinterpretations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Algelman syndrome difficulties in EEG pattern recognition and possible misinterpretations

Kette Dualibi Ramos Valente Joaquina Cavalcante Queiroz F de Andrade; Rosi Mary Grossmann; Fernando Kok; Cintia Fridman; Célia Priszkulnik Koiffmann; Maria Joaquina Marques-Dias

Epilepsia v. 44, n. 8, p. 1051-1063, 2003

Amsterdam 2003

Item não circula. Consulte sua biblioteca.(Acessar)

5
Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations
Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations

U. S Melo F Freua; D. S Lynch; B. D Ripa; R. B Tenorio; J. A. M Saute; F. de Souza Leite; J Kitajima; H Houlden; Mayana Zatz; F Kok

Clinical Genetics Hoboken v. 94, p. 482-483, 2018

Hoboken 2018

Localização: FM - Fac. Medicina    (OPI 29487 2018 )(Acessar)

6
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome

Fernanda Sarquis Jehee Carla Rosenberg; Ana Cristina Victorino Krepischi; Fernando Kok; Jeroen Knijnenburg; Guy Froyen; Angela M Vianna-Morgante; John M Opitz; Maria Rita Passos-Bueno

American Journal of Medical Genetics v. 139A, n. 3, p. 221-225, 2005

New York 2005

Item não circula. Consulte sua biblioteca.(Acessar)

7
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome

Fernanda Sarquis Jehee Carla Rosenberg; Ana Cristina Victorino Krepischi-Santos; Fernando Kok; Jeroen Knijnenburg; Guy Froyen; Angela Maria Vianna-Morgante; John M Opitz; Maria Rita Passos-Bueno

American Journal of Medical Genetics v. 139A, n. 3, p. 221-225, 2005

New York 2005

Item não circula. Consulte sua biblioteca.(Acessar)

8
Santos syndrome is caused by mutation in the WNT7A gene
Santos syndrome is caused by mutation in the WNT7A gene
Material Type:
Artigo 		Adicionar ao Meu Espaço

Santos syndrome is caused by mutation in the WNT7A gene

Leandro U. Alves Silvana Santos; Camila M Musso; Suzana A. M Ezquina; John M Opitz; Fernando Kok; Paulo A Otto; Regina Celia Mingroni Netto

Journal of human genetics v. 62, n. 12, p. 1073-1078, 2017

New York 2017

Acesso online. A biblioteca também possui exemplares impressos.

9
Consensus Statement chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
Consensus Statement chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
Material Type:
Artigo 		Adicionar ao Meu Espaço

Consensus Statement chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

David T. Miller Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John, A Crolla; E Eichler; Charles J Epstein; W. Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert H Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter

The American Journal of Human Genetics Cambridge v. 86 n. 5, p. 749-764, may 2010

Cambridge 2010

Item não circula. Consulte sua biblioteca.(Acessar)

10
Consensus Statement chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
Consensus Statement chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
Material Type:
Artigo 		Adicionar ao Meu Espaço

Consensus Statement chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

David T. Miller Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John, A Crolla; E Eichler; Charles J Epstein; W. Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert H Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter

The American Journal of Human Genetics Cambridge v. 86 n. 5, p. 749-764, may 2010

Cambridge 2010

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Kok, F
  2. Rosenberg, C
  3. Opitz, J
  4. Kitajima, J
  5. Zatz, M

Neste Assunto:

  1. Mutação Genética
  2. Sequenciamento Genético
  3. Cromossomo X (Anomalias)
  4. Malformações
  5. Retardo Mental

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

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