skip to main content
Idioma:
Mostrar solo
Refinado por: materia: Doenças Genéticas eliminar
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Cellular and molecular diagnoses of patients with Griscelli syndrome
Cellular and molecular diagnoses of patients with Griscelli syndrome
Material Type:
Artículo de Congreso 		Añadir a Mi Portal

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

Disponible en FCFRP - Fac. Ciên. Farm. Ribeirão Preto    (pcd 1588385 ) y otras localizaciones(Obténgalo)

2
Algelman syndrome difficulties in EEG pattern recognition and possible misinterpretations
Algelman syndrome difficulties in EEG pattern recognition and possible misinterpretations
Material Type:
Artículo 		Añadir a Mi Portal

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

Comprobar fondos(Obténgalo)

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:
Artículo 		Añadir a Mi Portal

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

Disponible en FM - Fac. Medicina    (BCBIB )(Obténgalo)

4
Algelman syndrome difficulties in EEG pattern recognition and possible misinterpretations
Algelman syndrome difficulties in EEG pattern recognition and possible misinterpretations
Material Type:
Artículo 		Añadir a Mi Portal

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

Comprobar fondos(Obténgalo)

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:
Artículo 		Añadir a Mi Portal

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

Disponible en FM - Fac. Medicina    (OPI 29487 2018 )(Obténgalo)

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:
Artículo 		Añadir a Mi Portal

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

Comprobar fondos(Obténgalo)

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:
Artículo 		Añadir a Mi Portal

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

Comprobar fondos(Obténgalo)

8
Santos syndrome is caused by mutation in the WNT7A gene
Santos syndrome is caused by mutation in the WNT7A gene
Material Type:
Artículo 		Añadir a Mi Portal

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

Acceso en línea. La biblioteca tiene también copias físicas.

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:
Artículo 		Añadir a Mi Portal

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

Comprobar fondos(Obténgalo)

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:
Artículo 		Añadir a Mi Portal

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

Comprobar fondos(Obténgalo)

Personalizar los resultados

  1. Editar

Refine Search Results

Ampliar mis resultados

  1.   

Mostrar solo

  1. Recursos en línea (2)
  2. Disponible (6)

Nuevas sugerencias de búsqueda

Ignorar mi consulta y buscar por todo

por este autor/creador:

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

con este tema:

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

  • Realización: ABCD-USP USP   Logos de Redes Sociales: Freepik

Buscando en bases de datos remotas, por favor espere

  • Buscando por
  • enscope:(USP_VIDEOS),scope:("PRIMO"),scope:(USP_FISICO),scope:(USP_EREVISTAS),scope:(USP),scope:(USP_EBOOKS),scope:(USP_PRODUCAO),primo_central_multiple_fe
  • Mostrar lo que tiene hasta ahora