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Resultados de 1 a 10 de 29  para Produção Intelectual da USP

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1
Cri du Chat syndrome Characteristics of 73 Brazilian patients
Cri du Chat syndrome Characteristics of 73 Brazilian patients
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Cri du Chat syndrome Characteristics of 73 Brazilian patients

R. S Honjo D. M Befi-lopes; C. A Kim

Journal of intellectual disability research v. 62, n. 6, p. 467-473, 2018

Hoboken 2018

Localização: FM - Fac. Medicina    (OPI 26934 2018 )(Acessar)

2
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
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Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

Hiromi Aoi Takeshi Mizuguchi; Jose Ricard Ceroni; Veronica Eun Hue Kim; Isabel Furquim; Rachel S Honjo; Takuma Iwaki; Toshifumi Suzuki; Futoshi Sekiguchi; Chong Ae Kim

Journal of human genetics v. 64, n. 10, p. 967-978, 2019

New York 2019

Acesso online. A biblioteca também possui exemplares impressos.

3
Williams-Beuren Syndrome Diagnosis by Polymorphic Markers
Williams-Beuren Syndrome Diagnosis by Polymorphic Markers
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Williams-Beuren Syndrome Diagnosis by Polymorphic Markers

Ivanete C. Sbruzzi Alexandre C Pereira; Beatriz Vasconcelos; Raquel S Honjo; José Eduardo Krieger; Chong A Kim

Genetic Testing and Molecular Biomarkers New York v. 14, n. 2, p. 209-214, 2010

New York 2010

Acesso online. A biblioteca também possui exemplares impressos.

4
Lipoid proteinosis Rare case confirmed by ECM1 mutation detection
Lipoid proteinosis Rare case confirmed by ECM1 mutation detection
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Lipoid proteinosis Rare case confirmed by ECM1 mutation detection

Tatiana F. Almeida Diogo C Soares; Caio R Quaio; Rachel S Honjo; Debora R Bertola; John A McGrath; Chong A Kim

International Journal of Pediatric Otorhinolaryngology Amsterdan v. 78, p. 2314-2315, 2014

Amsterdan 2014

Acesso online. A biblioteca também possui exemplares impressos.

5
Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI results of a long-term follow-up of Brazilian siblings
Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI results of a long-term follow-up of Brazilian siblings
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Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI results of a long-term follow-up of Brazilian siblings

J. F. Franco D. C Soares; L. C Torres; G. N Leal; M. T Cunha; R. S Honjo; D. R Bertola; C. A Kim

Genetics and Molecular Research Ribeirão Preto v. 15, n. 1, 7 p., art. 15017850, 2016

Ribeirão Preto 2016

Acesso online. A biblioteca também possui exemplares impressos.

6
Large deletion in PIGL a common mutational mechanism in CHIME syndrome?
Large deletion in PIGL a common mutational mechanism in CHIME syndrome?
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Large deletion in PIGL a common mutational mechanism in CHIME syndrome?

José R. M Ceroni Guilherme L Yamamoto; Rachel S Honjo; Chong A Kim; Maria Rita Passos-Bueno; Débora R Bertola

Genetics and Molecular Biology Ribeirão Preto online, 2018

Ribeirao Preto 2018

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

7
Large deletion in PIGL a common mutational mechanism in CHIME syndrome?
Large deletion in PIGL a common mutational mechanism in CHIME syndrome?
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Large deletion in PIGL a common mutational mechanism in CHIME syndrome?

Jose R. M. Ceroni Chong A Kim; Guilherme L Yamamoto; Rachel S Honjo; Maria Rita Passos-Bueno; Debora R Bertola

Genetics and molecular biology v. 41, n. 1, p. 85-91, 2018

Ribeirao Pret 2018

Localização: FM - Fac. Medicina    (OPI/27016 2018 )(Acessar)

8
Williams-Beuren Syndrome Diagnosis by Polymorphic Markers
Williams-Beuren Syndrome Diagnosis by Polymorphic Markers
Material Type:
Artigo 		Adicionar ao Meu Espaço

Williams-Beuren Syndrome Diagnosis by Polymorphic Markers

Ivanete C. Sbruzzi Alexandre C Pereira; Beatriz Vasconcelos; Raquel S Honjo; José Eduardo Krieger; Chong A Kim

Genetic Testing and Molecular Biomarkers New York v. 14, n. 2, p. 209-214, 2010

New York 2010

Acesso online. A biblioteca também possui exemplares impressos.

9
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry
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The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry

Taccyanna M. Ali Bianca D. W Linnenkamp; Guilherme L Yamamoto; Rachel S Honjo; Hamilton Cabral de Menezes Filho; Chong Ae Kim; Debora R Bertola

American journal of medical genetics part a v. 188, n. 5, p. 1545-1549, 2022

Hoboken 2022

Acesso online. A biblioteca também possui exemplares impressos.

10
Parental attitudes and beliefs about sexuality of individuals with intellectual disability Insights from a Brazilian sample of parents of individuals with Williams syndrome
Parental attitudes and beliefs about sexuality of individuals with intellectual disability Insights from a Brazilian sample of parents of individuals with Williams syndrome
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Parental attitudes and beliefs about sexuality of individuals with intellectual disability Insights from a Brazilian sample of parents of individuals with Williams syndrome

Rebeca Orselli Monteiro Tally Lichtensztejn Tafla; Juliana Dalla Martha Rodriguez; Sabine Triguero Teixeira; Rachel Sayuri Honjo; Chong Ae Kim; Maria Cristina Triguero Veloz Teixeira

Journal of applied research in intellectual disabilities v. 36, n. 6, p. 1345-1353, 2023

Hoboken 2023

Acesso online. A biblioteca também possui exemplares impressos.

Resultados de 1 a 10 de 29  para Produção Intelectual da USP

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Deste Autor:

  1. Honjo, R
  2. Kim, C
  3. Bertola, D
  4. Yamamoto, G
  5. Costa, S

Neste Assunto:

  1. Anormalidades Cromossômicas
  2. Doenças Genéticas
  3. Fenótipos
  4. Genética Médica
  5. Mutação Genética

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

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