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1
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)

2
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)

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 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)

4
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)

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; Célia Priszkulnik Koiffmann

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

Copenhagen 2005

Item não circula. Consulte sua biblioteca.(Acessar)

6
Cockayne syndrome type A novel mutations in eight typical patients
Cockayne syndrome type A novel mutations in eight typical patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Cockayne syndrome type A novel mutations in eight typical patients

Debora R. Bertola Henian Cao; Lilian M. J Albano; Fernando Kok; Maria Joaquina Marques-Dias; Chong A Kim; Robert A Hegele

Journal of human genetics Tokyo v.51, n.8, p.701-705, 2006

Tokyo 2006

Localização: FM - Fac. Medicina    (FM BCSEP 155 2006 )(Acessar)

7
Cockayne syndrome type A novel mutations in eight typical patients
Cockayne syndrome type A novel mutations in eight typical patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Cockayne syndrome type A novel mutations in eight typical patients

Debora R. Bertola Henian Cao; Lilian M. J Albano; Fernando Kok; Maria Joaquina Marques-Dias; Chong A Kim; Robert A Hegele

Journal of human genetics Tokyo v.51, n.8, p.701-705, 2006

Tokyo 2006

Localização: FM - Fac. Medicina    (FM BCSEP 155 2006 )(Acessar)

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Deste Autor:

  1. Kim, C
  2. Kok, F
  3. Setian, N
  4. Koiffmann, C
  5. Otto, P

Neste Assunto:

  1. Mutação Genética
  2. Genótipos
  3. Cromossomos
  4. Psicomotricidade
  5. Fenótipos

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

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