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1
Screening of patients with trigonocephaly with markers from the 9p and 11q regions
Screening of patients with trigonocephaly with markers from the 9p and 11q regions
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Screening of patients with trigonocephaly with markers from the 9p and 11q regions

Fernanda Sarquis Jehee D Johnson; L Alonso; K Abe; N Alonso; Hamilton Matushita; C Kim; S Cavalheiro; S. A Wall; A. O. M Wilkie; Maria Rita Passos-Bueno; Annual Meeting of the American Society of Human Genetics (52. 2002 Baltimore)

Abstracts v. 71, n. 4, suppl., p. 514 res.2017, oct. 2002

Baltimore 2002

Item não circula. Consulte sua biblioteca.(Acessar)

2
Is the Prader-Willi syndrome phenotype related to molecular mechanisms? A study of 75 patients
Is the Prader-Willi syndrome phenotype related to molecular mechanisms? A study of 75 patients
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Is the Prader-Willi syndrome phenotype related to molecular mechanisms? A study of 75 patients

C. Varela Fernando Kok; Nuvarte Setian; C A Kim; Célia Priszkulnik Koiffmann; Annual Meeting of the American Society of Human Genetics (54. 2004 Toronto, Canadá)

Abstracts Toronto, 2004

Toronto 2004

Item não circula. Consulte sua biblioteca.(Acessar)

3
Chromosome imbalances in syndromic hearing loss
Chromosome imbalances in syndromic hearing loss
Material Type:
Artigo 		Adicionar ao Meu Espaço

Chromosome imbalances in syndromic hearing loss

A.L.P.M. Catelani Ana Cristina Victorino Krepischi; C. A Kim; Fernando Kok; Paulo A Otto; Maria Teresa Ballester de Melo Auricchio; Juliana Forte Mazzeu; D. T Uehara; S. S Costa; Jeroen Knijnenburg; Alfredo Tabith Junior; Angela M Vianna-Morgante; Regina Celia Mingroni Netto; Carla Rosenberg

Clinical Genetics v. 76, n. 5, p. 458-464, 2009

Oxford 2009

Item não circula. Consulte sua biblioteca.(Acessar)

4
Chromosome imbalances in syndromic hearing loss
Chromosome imbalances in syndromic hearing loss
Material Type:
Artigo 		Adicionar ao Meu Espaço

Chromosome imbalances in syndromic hearing loss

A.L.P.M. Catelani Ana Cristina Victorino Krepischi; C. A Kim; Fernando Kok; Paulo Alberto Otto; Maria Teresa Ballester de Melo Auricchio; Juliana Forte Mazzeu; D. T Uehara; S. S Costa; Jeroen Knijnenburg; Alfredo Tabith Junior; Angela Maria Vianna-Morgante; Regina Célia Mingroni-Netto; Carla Rosenberg

Clinical Genetics v. 76, n. 5, p. 458-464, 2009

Oxford 2009

Item não circula. Consulte sua biblioteca.(Acessar)

5
Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype study of 75 patients
Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype study of 75 patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype study of 75 patients

M. C. Varela Fernando Kok; Nuvarte Setian; C. A Kim; Celia Priszkulnik Koiffmann

Clinical Genetics v. 67, n. 1, p. 47-52, 2005

Copenhagen 2005

Item não circula. Consulte sua biblioteca.(Acessar)

6
Shox mutations in idiopathic short stature and Leri-Weill dyschondrosteosis Frequency and phenotypic variability
Shox mutations in idiopathic short stature and Leri-Weill dyschondrosteosis Frequency and phenotypic variability
Material Type:
Artigo 		Adicionar ao Meu Espaço

Shox mutations in idiopathic short stature and Leri-Weill dyschondrosteosis Frequency and phenotypic variability

Alexander A. L. Jorge Silvia C Souza; Miriam Y Nishi; Ana E Billerbeck; Débora C. C Libório; Chong A Kim; Ivo J. P Arnhold; Berenice Bilharinho Mendonça

Clinical Endocrinology Oxford v. 66, p. 130-135, 2007

Oxford 2007

Localização: FM - Fac. Medicina    (BCSEP 001 2007 )(Acessar)

7
Obesity in pycnodysostosis due to UPD1 possible effect of an imprinted gene on chromosome 1
Obesity in pycnodysostosis due to UPD1 possible effect of an imprinted gene on chromosome 1
Material Type:
Artigo 		Adicionar ao Meu Espaço

Obesity in pycnodysostosis due to UPD1 possible effect of an imprinted gene on chromosome 1

Débora Romeo Bertola Meire Aguena; Guilherme Yamamoto; Chong Ae Kim; Maria Rita Passos-Bueno

American Journal of Medical Genetics Part A Hoboken v. 155A, n. 6, p. 1483-1486, june 2011

Hoboken 2011

Item não circula. Consulte sua biblioteca.(Acessar)

8
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)

9
Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype study of 75 patients
Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype study of 75 patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype study of 75 patients

M. C. Varela Fernando Kok; Nuvarte Setian; C. A Kim; Célia Priszkulnik Koiffmann

Clinical Genetics v. 67, n. 1, p. 47-52, 2005

Copenhagen 2005

Item não circula. Consulte sua biblioteca.(Acessar)

10
Shox mutations in idiopathic short stature and Leri-Weill dyschondrosteosis Frequency and phenotypic variability
Shox mutations in idiopathic short stature and Leri-Weill dyschondrosteosis Frequency and phenotypic variability
Material Type:
Artigo 		Adicionar ao Meu Espaço

Shox mutations in idiopathic short stature and Leri-Weill dyschondrosteosis Frequency and phenotypic variability

Alexander A. L. Jorge Silvia C Souza; Miriam Y Nishi; Ana E Billerbeck; Débora C. C Libório; Chong A Kim; Ivo J. P Arnhold; Berenice Bilharinho Mendonça

Clinical Endocrinology Oxford v. 66, p. 130-135, 2007

Oxford 2007

Localização: FM - Fac. Medicina    (BCSEP 001 2007 )(Acessar)

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Deste Autor:

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

Neste Assunto:

  1. Mutação Genética
  2. Doenças Genéticas
  3. Fenótipos
  4. Genética Médica
  5. Fenótipos (Análise)

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

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