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Refinado por: autor: Ceroni, J remover
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1
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)

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?

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)

3
Natural history of 39 patients with Achondroplasia
Natural history of 39 patients with Achondroplasia
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Natural history of 39 patients with Achondroplasia

Jose Ricardo Magliocco Ceroni Chong Ae Kim; Diogo Cordeiro de Queiroz Soares; Larissa de Cassia Testai; Rachel Sayuri Honjo Kawahira; Guilherme Lopes Yamamoto; Sofia Mizuho Miura Sugayama; Luiz Antonio Nunes de Oliveira; Debora Romeo Bertola

Clinics v. 73, article ID UNSP e324, 5p, 2018

Sao Paulo 2018

Localização: FM - Fac. Medicina    (OPI 28205 2018 )(Acessar)

4
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
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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)

5
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
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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.

6
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
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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)

7
Author Correction whole-genome sequencing of 1,171 elderly admixed individuals from Brazil
Author Correction whole-genome sequencing of 1,171 elderly admixed individuals from Brazil
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Author Correction whole-genome sequencing of 1,171 elderly admixed individuals from Brazil

Michel Naslavsky Marilia O Scliar; Guilherme L Yamamoto; Jaqueline Yu Ting Wang; Stepanka Zverinova; Tatiana Karp; Kelly Nunes; José Ricardo Magliocco Ceroni; Diego Lima de Carvalho; Carlos Eduardo da Silva Simões; Daniel Bozoklian; Ricardo Nonaka; Nayane dos Santos Brito Silva; Andreia da Silva Souza; Heloísa de Souza Andrade; Marília Rodrigues Silva Passos; Camila Ferreira Bannwart Castro; Celso T Mendes-Junior; Rafael L. V Mercuri; Thiago L. A Miller; Jose Leonel Buzzo; Fernanda O Rego; Nathalia M Araújo; Wagner C. S Magalhães; Regina Celia Mingroni Netto; Victor Borda; Heinner Guio; Carlos P Rojas; Cesar Sanchez; Omar Caceres; Michael Dean; Mauricio L Barreto; Maria Fernanda Lima-Costa; Bernardo L Horta; Eduardo Tarazona-Santos; Diogo Meyer; Pedro A. F Galante; Victor Guryev; Erick C Castelli; Yeda Aparecida de Oliveira Duarte; Maria Rita Passos-Bueno; Mayana Zatz

Nature London v. 13, n. 1831, on-line, 2022

London 2022

Item não circula. Consulte sua biblioteca.(Acessar)

8
Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil
Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil
Material Type:
Artigo 		Adicionar ao Meu Espaço

Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil

Michel Naslavsky Marilia O Scliar; Guilherme L Yamamoto; Jaqueline Yu Ting Wang; Stepanka Zverinova; Tatiana Karp; Kelly Nunes; José Ricardo Magliocco Ceroni; Diego Lima de Carvalho; Carlos Eduardo da Silva Simões; Daniel Bozoklian; Ricardo Nonaka; Nayane dos Santos Brito Silva; Andreia da Silva Souza; Heloísa de Souza Andrade; Marília Rodrigues Silva Passos; Camila Ferreira Bannwart Castro; Celso T Mendes-Junior; Rafael L. V Mercuri; Thiago L. A Miller; Jose Leonel Buzzo; Fernanda O Rego; Nathalia M Araújo; Wagner C. S Magalhães; Regina Celia Mingroni Netto; Victor Borda; Heinner Guio; Carlos P Rojas; Cesar Sanchez; Omar Caceres; Michael Dean; Mauricio L Barreto; Maria Fernanda Lima-Costa; Bernardo L Horta; Eduardo Tarazona-Santos; Diogo Meyer; Pedro A. F Galante; Victor Guryev; Erick C Castelli; Yeda Aparecida de Oliveira Duarte; Maria Rita Passos-Bueno; Mayana Zatz

Nature London v. 13, n. 1004, on-line, 2022

London 2022

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

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

Neste Assunto:

  1. Mutação Genética
  2. Sequenciamento Genético
  3. Miscigenação
  4. Idosos
  5. Diagnóstico Clínico

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

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