skip to main content
Idioma:
Primo Advanced Search
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search prefilters
Busca Simples
Resultados 1 2 3 4 5 next page
Mostrar Somente
Refinado por: assunto: Genetics & Heredity remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations
Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations

Melo, U.S. ; Freua, F. ; Lynch, D.S. ; Ripa, B.D. ; Tenorio, R.B. ; Saute, J.A.M. ; de Souza Leite, F. ; Kitajima, J. ; Houlden, H. ; Zatz, M. ; Kok, F.

Clinical genetics, 2018-11, Vol.94 (5), p.482-483 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
2
The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case
The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case
Material Type:
Artigo 		Adicionar ao Meu Espaço

The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case

Funke, AD ; Esser, M ; Krüttgen, A ; Weis, J ; Mitne-Neto, M ; Lazar, M ; Nishimura, AL ; Sperfeld, AD ; Trillenberg, P ; Senderek, J ; Krasnianski, M ; Zatz, M ; Zierz, S ; Deschauer, M

Clinical genetics, 2010-03, Vol.77 (3), p.302-303 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
3
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
Material Type:
Artigo 		Adicionar ao Meu Espaço

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

Nigro, V ; de Sá Moreira, E ; Piluso, G ; Vainzof, M ; Belsito, A ; Politano, L ; Puca, A A ; Passos-Bueno, M R ; Zatz, M

Nature genetics, 1996-10, Vol.14 (2), p.195-198 [Periódico revisado por pares]

United States

Texto completo disponível

Citações Citado por
4
A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13
A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13

Nishimura, A L ; Mitne-Neto, M ; Silva, H C A ; Oliveira, J R M ; Vainzof, M ; Zatz, M

Journal of medical genetics, 2004-04, Vol.41 (4), p.315-320 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
5
Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene
Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene
Material Type:
Artigo 		Adicionar ao Meu Espaço

Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene

Moraes, M V D ; Milanez, M ; Almada, B V P ; Sipolatti, V ; Rebouças, M R G O ; Nunes, V R R ; Akel, Jr, A N ; Zatz, M ; Errera, F I V ; Louro, I D ; Paula, F

Genetics and molecular research, 2012-09, Vol.11 (3), p.3246-3255 [Periódico revisado por pares]

Brazil

Texto completo disponível

Citações Citado por
6
Comments to the paper by Ambrósio CE, Fadel L, Gaiad TP, Martins DS, et al. [Identification of three distinguishable phenotypes in golden retriever muscular dystrophy (Genet. Mol. Res. 2009 Apr 7;8 (2): 389-396)]
Comments to the paper by Ambrósio CE, Fadel L, Gaiad TP, Martins DS, et al. [Identification of three distinguishable phenotypes in golden retriever muscular dystrophy (Genet. Mol. Res. 2009 Apr 7;8 (2): 389-396)]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Comments to the paper by Ambrósio CE, Fadel L, Gaiad TP, Martins DS, et al. [Identification of three distinguishable phenotypes in golden retriever muscular dystrophy (Genet. Mol. Res. 2009 Apr 7;8 (2): 389-396)]

Zucconi, E ; Jazedje, T ; Valadares, M C ; Zatz, M

Genetics and molecular research, 2009-07, Vol.8 (3), p.818-821 [Periódico revisado por pares]

Brazil

Texto completo disponível

Citações Citado por
7
The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies
The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies
Material Type:
Artigo 		Adicionar ao Meu Espaço

The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies

Vainzof, M. ; Passos-Bueno, M. R. ; Canovas, M. ; Moreira, E. S. ; Pavanello, R. C. M. ; Marie, S. K. ; Anderson, L. V. B. ; Bonnemann, C. G. ; McNally, E. M. ; Nigro, V. ; Kunkel, L. M. ; Zatz, M.

Human molecular genetics, 1996-12, Vol.5 (12), p.1963-1969 [Periódico revisado por pares]

Oxford: Oxford University Press

Texto completo disponível

Citações Citado por
8
Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation
Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation

MCNALLY, E. M ; PASSOS-BUENO, M. R ; KUNKEL, L. M ; BÖNNEMANN, C. G ; VAINZOF, M ; DE SA MOREIRA, E ; LIDOV, H. G. W ; OTHMANE, K. B ; DENTON, P. H ; VANCE, J. M ; ZATZ, M

American journal of human genetics, 1996-11, Vol.59 (5), p.1040-1047 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

Texto completo disponível

Citações Citado por
9
A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21
A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21
Material Type:
Artigo 		Adicionar ao Meu Espaço

A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21

Takata, R I ; Speck Martins, C E ; Passosbueno, M R ; Abe, K T ; Nishimura, A L ; Dorvalina Da Silva, M ; Monteiro, A ; Lima, M I ; Kok, F ; Zatz, M

Journal of medical genetics, 2004-03, Vol.41 (3), p.224-229 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
10
Linkage Analysis in Autosomal Recessive Limb-Girdle Muscular Dystrophy (AR LGMD) Maps a Sixth Form to 5q33–34 (LGMD2F) and Indicates That There is at Least One More Subtype of AR LGMD
Linkage Analysis in Autosomal Recessive Limb-Girdle Muscular Dystrophy (AR LGMD) Maps a Sixth Form to 5q33–34 (LGMD2F) and Indicates That There is at Least One More Subtype of AR LGMD
Material Type:
Artigo 		Adicionar ao Meu Espaço

Linkage Analysis in Autosomal Recessive Limb-Girdle Muscular Dystrophy (AR LGMD) Maps a Sixth Form to 5q33–34 (LGMD2F) and Indicates That There is at Least One More Subtype of AR LGMD

Passos-Bueno, M. R. ; Moreira, E. S. ; Vainzof, M. ; Marie, S. K. ; Zatz, M.

Human molecular genetics, 1996-06, Vol.5 (6), p.815-820 [Periódico revisado por pares]

Oxford: Oxford University Press

Texto completo disponível

Citações Citado por
Resultados 1 2 3 4 5 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Revistas revisadas por pares (63)

Data de Publicação 

De até
Refinar
  1. Antes de1985  (10)
  2. 1985Até1990  (18)
  3. 1991Até1997  (33)
  4. 1998Até2004  (34)
  5. Após 2004  (13)
  6. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.