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1
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]

Alessandra Splendore E. W Jabs; Maria Rita Passos-Bueno

Journal of Medical Genetics v. 39, n. 7, p. 493-495, 2002

London 2002

Item não circula. Consulte sua biblioteca.(Acessar)

2
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
Material Type:
Artigo 		Adicionar ao Meu Espaço

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Eva Klopocki Silke Lohan Doelken Sandra C; Sigmar Stricker; Charlotte W Ockeloen; Renata Soares Thiele de Aguiar; Karina Lezirovitz; Regina Celia Mingroni Netto; Aleksander Jamsheer; Hitesh Shah; Ingo Kurth; Rolf Habenicht; Matthew Warman; Koenraad Devriendt; Ulrike Kordaß; Maja Hempel; Anna Rajab; Outi Mäkitie; Mohammed Naveed; Uppala Radhakrishna; Stylianos E Antonarakis

Journal of Medical Genetics London v. 49, n. 2, p. 119-125, Feb. 2012

London 2012

Item não circula. Consulte sua biblioteca.(Acessar)

3
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]

Alessandra Splendore E. W Jabs; Maria Rita Passos-Bueno

Journal of Medical Genetics v. 39, n. 7, p. 493-495, 2002

London 2002

Item não circula. Consulte sua biblioteca.(Acessar)

4
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
Material Type:
Artigo 		Adicionar ao Meu Espaço

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Eva Klopocki Silke Lohan Doelken Sandra C; Sigmar Stricker; Charlotte W Ockeloen; Renata Soares Thiele de Aguiar; Karina Lezirovitz; Regina Célia Mingroni-Netto; Aleksander Jamsheer; Hitesh Shah; Ingo Kurth; Rolf Habenicht; Matthew Warman; Koenraad Devriendt; Ulrike Kordaß; Maja Hempel; Anna Rajab; Outi Mäkitie; Mohammed Naveed; Uppala Radhakrishna; Stylianos E Antonarakis

Journal of Medical Genetics London v. 49, n. 2, p. 119-125, Feb. 2012

London 2012

Item não circula. Consulte sua biblioteca.(Acessar)

5
Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype
Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype
Material Type:
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Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype

M. M. O Tonini R C M Pavanello; J Gurgel-Giannetti; R J Lemmers; S M van der Maarel; R R Frants; Mayana Zatz

Journal of Medical Genetics London v. 41, n. 2, e17, 2004

London 2004

Item não circula. Consulte sua biblioteca.(Acessar)

6
New locus underlying auriculocondylar syndrome (ARCND) 430 kb duplication involving TWIST1 regulatory elements
New locus underlying auriculocondylar syndrome (ARCND) 430 kb duplication involving TWIST1 regulatory elements
Material Type:
Artigo 		Adicionar ao Meu Espaço

New locus underlying auriculocondylar syndrome (ARCND) 430 kb duplication involving TWIST1 regulatory elements

Vanessa Luiza Romanelli Tavares Sofia Ligia Guimarães-Ramos; Yan Zhou; Cibele Masotti; Suzana Ezquina; Danielle de Paula Moreira; Henk Buermans; Renato S Freitas; Johan T Den Dunnen; Stephen R F Twigg; Maria Rita Passos-Bueno

Journal of Medical Genetics London on-line, 2021

London 2021

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Passos-Bueno, M
  2. Ockeloen, C
  3. Lezirovitz, K
  4. Lohan, S
  5. Mingroni Netto, R

Neste Assunto:

  1. Malformações
  2. Genética Médica
  3. Doenças Genéticas
  4. Mutação Genética
  5. Distrofia Muscular

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

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