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Assessing pathogenicity for novel mutation/sequence variants healthy older individuals
Assessing pathogenicity for novel mutation/sequence variants healthy older individuals
Material Type:
Artigo 		Adicionar ao Meu Espaço

Assessing pathogenicity for novel mutation/sequence variants healthy older individuals

Mayana Zatz Rita de Cássia M Pavanello; Naila Cristina V Lourenço; Antonia Maria Pereira de Cerqueira; Monize Lazar; Mariz Vainzof

Neuromolecular Medicine Totowa v. 14, n. 4, p. 281-284, dec. 2012.

Totowa 2012

Acesso online

2
Assessing pathogenicity for novel mutation/sequence variants healthy older individuals
Assessing pathogenicity for novel mutation/sequence variants healthy older individuals
Material Type:
Artigo 		Adicionar ao Meu Espaço

Assessing pathogenicity for novel mutation/sequence variants healthy older individuals

Mayana Zatz Rita de Cássia M Pavanello; Naila Cristina V Lourenço; Antonia Maria Pereira de Cerqueira; Monize Lazar; Mariz Vainzof

Neuromolecular Medicine Totowa v. 14, n. 4, p. 281-284, dec. 2012.

Totowa 2012

Acesso online

3
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease a case report
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease a case report
Material Type:
Artigo 		Adicionar ao Meu Espaço

Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease a case report

Thais Cuperman Stephanie A Fernandes; Naila Cristina Vilaça Lourenço; Lydia Uraco Yamamoto; Helga Cristina Almeida da Silva; Rita de Cássia M Pavanello; Guilherme L Yamamoto; Mayana Zatz; Acary S. B Oliveira; Mariz Vainzof

BMC Research Notes London v. 7, art. 487, p. 1-5, Aug. 2014

London 2014

Acesso online

4
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

N. M. Vieira Michel Naslavsky; L Licinio; F Kok; D Schlesinger; Mariz Vainzof; N Sanchez; J. P Kitajima; L Gal; N Cavacana; P. R Serafini; S Chuartzman; C Vasquez; A Mimbacas; V Nigro; R. C. M Pavanello; M Schuldiner; L. M Kunkel; Mayana Zatz; International World Muscle Society Congress (19. 2014 Berlin)

Neuromuscular Disorders Oxford (GB) v. 24, n. 9/10, p. 851, abstr. G.0.8, 2014

Oxford GB 2014

Acesso online. A biblioteca também possui exemplares impressos.

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Deste Autor:

  1. Zatz, M
  2. Vainzof, M
  3. Pavanello, R
  4. Lourenço, N
  5. Lazar, M

Neste Assunto:

  1. Mutação Genética
  2. Genomas
  3. Doenças Neuromusculares
  4. Sequenciamento Genético
  5. Fenótipos

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

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