skip to main content
Idioma:
Refinado por: Nome da Publicação: Journal Of Medical Genetics remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Automated genomic sequence analysis of the three collagen VI genes applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
Automated genomic sequence analysis of the three collagen VI genes applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Automated genomic sequence analysis of the three collagen VI genes applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

A. K. Lampe D. M Dunn; A. C. van Niederhausern; C Hamil; A Aoyagi; S. H Laval; S. K Marie; M.-L Chu; K Swoboda; F Muntoni; C. G Bonnemann; K. M Flanigan; K. M. D Bushby; R. B Weiss

Journal of Medical Genetics v. 42, p. 108-120, 2005

London 2005

Localização: FM - Fac. Medicina    (FM BCSEP 167 2005 )(Acessar)

2
Automated genomic sequence analysis of the three collagen VI genes applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
Automated genomic sequence analysis of the three collagen VI genes applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Automated genomic sequence analysis of the three collagen VI genes applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

A. K. Lampe D. M Dunn; A. C. van Niederhausern; C Hamil; A Aoyagi; S. H Laval; S. K Marie; M.-L Chu; K Swoboda; F Muntoni; C. G Bonnemann; K. M Flanigan; K. M. D Bushby; R. B Weiss

Journal of Medical Genetics v. 42, p. 108-120, 2005

London 2005

Localização: FM - Fac. Medicina    (FM BCSEP 167 2005 )(Acessar)

3
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Ansari, Morad ; Poke, Gemma ; Ferry, Quentin ; Williamson, Kathleen ; Aldridge, Roland ; Meynert, Alison M ; Bengani, Hemant ; Chan, Cheng Yee ; Kayserili, Hülya ; Avci, Şahin ; Hennekam, Raoul C M ; Lampe, Anne K ; Redeker, Egbert ; Homfray, Tessa ; Ross, Alison ; Falkenberg Smeland, Marie ; Mansour, Sahar ; Parker, Michael J ; Cook, Jacqueline A ; Splitt, Miranda ; Fisher, Richard B ; Fryer, Alan ; Magee, Alex C ; Wilkie, Andrew ; Barnicoat, Angela ; Brady, Angela F ; Cooper, Nicola S ; Mercer, Catherine ; Deshpande, Charu ; Bennett, Christopher P ; Pilz, Daniela T ; Ruddy, Deborah ; Cilliers, Deirdre ; Johnson, Diana S ; Josifova, Dragana ; Rosser, Elisabeth ; Thompson, Elizabeth M ; Wakeling, Emma ; Kinning, Esther ; Stewart, Fiona ; Flinter, Frances ; Girisha, Katta M ; Cox, Helen ; Firth, Helen V ; Kingston, Helen ; Wee, Jamie S ; Hurst, Jane A ; Clayton-Smith, Jill ; Tolmie, John ; Vogt, Julie ; Tatton–Brown, Katrina ; Chandler, Kate ; Prescott, Katrina ; Wilson, Louise ; Behnam, Mahdiyeh ; McEntagart, Meriel ; Davidson, Rosemarie ; Lynch, Sally-Ann ; Sisodiya, Sanjay ; Mehta, Sarju G ; McKee, Shane A ; Mohammed, Shehla ; Holden, Simon ; Park, Soo-Mi ; Holder, Susan E ; Harrison, Victoria ; McConnell, Vivienne ; Lam, Wayne K ; Green, Andrew J ; Donnai, Dian ; Bitner-Glindzicz, Maria ; Donnelly, Deirdre E ; Nellåker, Christoffer ; Taylor, Martin S ; FitzPatrick, David R

Journal of medical genetics, 2014-10, Vol.51 (10), p.659-668 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

Texto completo disponível

Citações Citado por

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Bonnemann, C
  2. Weiss, R
  3. Hamil, C
  4. Marie, S
  5. Flanigan, K

Neste Assunto:

  1. Colágeno
  2. Distrofia Muscular (Congênito)
  3. Análise Sequencial
  4. Genomas
  5. Classification

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

Buscando em bases de dados remotas. Favor aguardar.