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Resultados de 1 a 10 de 13  para Produção Intelectual da USP

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1
Schinzel–Giedion syndrome in two Brazilian patients report of a novel mutation in SETBP1 and literature review of the clinical features
Schinzel–Giedion syndrome in two Brazilian patients report of a novel mutation in SETBP1 and literature review of the clinical features
Material Type:
Artigo 		Adicionar ao Meu Espaço

Schinzel–Giedion syndrome in two Brazilian patients report of a novel mutation in SETBP1 and literature review of the clinical features

Ellaine Carvalho Rachel Honjo; Monize Magalhães; Guilherme Yamamoto; Katia Rocha; Michel Naslavsky; Mayana Zatz; Maria Rita Passos-Bueno; Chong Kim

American Journal of Medical Genetics New York p. on-line., 2015

New York 2015

Item não circula. Consulte sua biblioteca.(Acessar)

2
Large deletion in PIGL a common mutational mechanism in CHIME syndrome?
Large deletion in PIGL a common mutational mechanism in CHIME syndrome?
Material Type:
Artigo 		Adicionar ao Meu Espaço

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)

3
Large deletion in PIGL a common mutational mechanism in CHIME syndrome?
Large deletion in PIGL a common mutational mechanism in CHIME syndrome?
Material Type:
Artigo 		Adicionar ao Meu Espaço

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)

4
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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.

5
Richieri-Costa-Pereira syndrome expanding its phenotypicand genotypic spectrum
Richieri-Costa-Pereira syndrome expanding its phenotypicand genotypic spectrum
Material Type:
Artigo 		Adicionar ao Meu Espaço

Richieri-Costa-Pereira syndrome expanding its phenotypicand genotypic spectrum

D R Bertola G Hsia; L Alvizi; A Gardham; E. L Wakeling; G. L Yamamoto; R. S Honjo; L. A. N Oliveira; R. C. Di Francesco; B A Perez; C A Kim; Maria Rita Passos-Bueno

Clinical Genetics Hoboken online, p. 1-12, Feb. 2018

Hoboken 2018

Localização: FM - Fac. Medicina    (OPI 26383 2018 )(Acessar)

6
Phenotype-genotype analysis of 242 individuals with RASopathies 18-year experience of a tertiary center in Brazil
Phenotype-genotype analysis of 242 individuals with RASopathies 18-year experience of a tertiary center in Brazil
Material Type:
Artigo 		Adicionar ao Meu Espaço

Phenotype-genotype analysis of 242 individuals with RASopathies 18-year experience of a tertiary center in Brazil

Débora R Bertola Matheus A. A Castro; Guilherme Lopes Yamamoto; Rachel Sayuri Honjo; José Ricardo Ceroni; Michele M Buscarilli; Amanda B Freitas; Alexsandra C Malaquias; Alexandre C Pereira; Alexander A. L Jorge; Maria Rita Passos-Bueno; Chong A Kim

American journal of medical genetics. Part C, Seminars in medical genetics Hoboken v. 184, n. 4, p. 896-911, Dec. 2020

Hoboken 2020

Item não circula. Consulte sua biblioteca.(Acessar)

7
Vertebral segmentation defects in a Brazilian cohort. [Carta] clinical and molecular analysis focused on spondylocostal dysostosis
Vertebral segmentation defects in a Brazilian cohort. [Carta] clinical and molecular analysis focused on spondylocostal dysostosis
Material Type:
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Vertebral segmentation defects in a Brazilian cohort. [Carta] clinical and molecular analysis focused on spondylocostal dysostosis

Bianca Linnenkamp Raissa Girardi; Leticia Rocha; Guilherme Yamamoto; Jose Ricardo Ceroni; Antonia Elisabeth Cristhina Mendes; Rachel Honjo; Luiz Antonio Oliveira; Raphael Bruno Amemiya; Chong Ae Kim

Clinical genetics v. 101, n. 4, p. 476-478, 2022

Hoboken 2022

Acesso online. A biblioteca também possui exemplares impressos.

8
Next generation sequencing as a confirmatory diagnostic tool in a Brazilian Skeletal Dysplasia Tertiary Center
Next generation sequencing as a confirmatory diagnostic tool in a Brazilian Skeletal Dysplasia Tertiary Center
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Next generation sequencing as a confirmatory diagnostic tool in a Brazilian Skeletal Dysplasia Tertiary Center

W. A. R. Baratela G. L Yamamoto; L. C Testai; R Honjo; L. A. N Oliveira; M. J. R Doriqui; R Rosa; J. G. C Meira; João Monteiro de Pina Neto; D. P Cavalcanti; C. A Kim; Maria Rita Passos-Bueno; D. R Bertola; Annual Meeting of the American Society of Human Genetics (ASHG) (66. 2016 Vancouver)

Poster Abstracts Vancouver : ASHG, 2016

Vancouver ASHG 2016

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2879107 Estantes Deslizantes )(Acessar)

9
Congenital limb deficiency genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms
Congenital limb deficiency genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms
Material Type:
Artigo 		Adicionar ao Meu Espaço

Congenital limb deficiency genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms

Letícia Alves da Rocha Lucas Vieira Lacerda Pires; Guilherme Lopes Yamamoto; José Ricardo Magliocco Ceroni; Rachel Sayuri Honjo; Edgard de Novaes França Bisneto; Luiz Antônio Nunes Oliveira; Carla Rosenberg; Ana Cristina Victorino Krepischi; Maria Rita Passos-Bueno; Chong Ae Kim; Débora Romeo Bertola

Clinical Genetics Hoboken v. 100, n. 5, p. 615-623, 2021

Hoboken 2021

Item não circula. Consulte sua biblioteca.(Acessar)

10
Burden of rare copy number variants in microcephaly a Brazilian cohort of 185 microcephalic patients and review of the literature
Burden of rare copy number variants in microcephaly a Brazilian cohort of 185 microcephalic patients and review of the literature
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Burden of rare copy number variants in microcephaly a Brazilian cohort of 185 microcephalic patients and review of the literature

Giovanna Cantini Tolezano Giovanna Civitate Bastos; Silvia Souza da Costa; Bruna Lucheze Freire; Thais Kataoka Homma; Rachel Sayuri Honjo; Guilherme Lopes Yamamoto; Maria Rita Passos-Bueno; Celia Priszkulnik Koiffmann; Chong Ae Kim; Angela M Vianna-Morgante; Alexander Augusto de Lima Jorge; Débora Romeo Bertola; Carla Rosenberg; Ana Cristina Victorino Krepischi

Journal of Autism and Developmental Disorders New York on-line, 2022

New York 2022

Item não circula. Consulte sua biblioteca.(Acessar)

Resultados de 1 a 10 de 13  para Produção Intelectual da USP

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Deste Autor:

  1. Yamamoto, G
  2. Honjo, R
  3. Kim, C
  4. Bertola, D
  5. Passos-Bueno, M

Neste Assunto:

  1. Genética Médica
  2. Mutação Genética
  3. Fenótipos
  4. Doenças Genéticas
  5. Sequenciamento Genético

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

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