skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Mostrar Somente
Refinado por: Base de dados/Biblioteca: Wiley Online Library remover Base de dados/Biblioteca: Wiley-Blackwell Journals remover Wiley-Blackwell Full Collection 2013 remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Muscle MRI in inherited neuromuscular disorders: Past, present, and future
Muscle MRI in inherited neuromuscular disorders: Past, present, and future
Material Type:
Artigo 		Adicionar ao Meu Espaço

Muscle MRI in inherited neuromuscular disorders: Past, present, and future

Mercuri, Eugenio ; Pichiecchio, Anna ; Allsop, Joanna ; Messina, Sonia ; Pane, Marika ; Muntoni, Francesco

Journal of magnetic resonance imaging, 2007-02, Vol.25 (2), p.433-440 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

Citações Citado por
2
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease

Herman, Isabella ; Lopez, Michael A. ; Marafi, Dana ; Pehlivan, Davut ; Calame, Daniel G. ; Abid, Farida ; Lotze, Timothy E.

Muscle & nerve, 2021-03, Vol.63 (3), p.304-310 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
3
NOTCH2NLC‐related oculopharyngodistal myopathy type 3 with cardiomyopathy and nephropathy
NOTCH2NLC‐related oculopharyngodistal myopathy type 3 with cardiomyopathy and nephropathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

NOTCH2NLC‐related oculopharyngodistal myopathy type 3 with cardiomyopathy and nephropathy

Gu, Xinyu ; Yue, Dongyue ; Qiao, Kai ; Huang, Guoqian ; Zhu, Wenhua ; Xi, Jianying ; Zhu, Hui

Muscle & nerve, 2023-05, Vol.67 (5), p.E18-E21 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
4
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes

Chandrasekhar, Anjana ; Mroczkowski, Henry J. ; Urraca, Nora ; Gross, Andrew ; Bluske, Krista ; Thorpe, Erin ; Hagelstrom, R. Tanner ; Schonberg, Steven A. ; Perry, Denise L. ; Taft, Ryan J. ; Kesari, Akanchha

American journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63462-n/a [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
5
Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy
Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy

Tomar, Swati ; Moorthy, Vikaesh ; Sethi, Raman ; Chai, Josiah ; Low, Poh Sim ; Hong, Stacey Tay Kiat ; Lai, Poh San

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-06, Vol.181 (2), p.230-244

Hoboken, USA: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
6
Mutation update: The spectra of PLEC sequence variants and related plectinopathies
Mutation update: The spectra of PLEC sequence variants and related plectinopathies
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutation update: The spectra of PLEC sequence variants and related plectinopathies

Vahidnezhad, Hassan ; Youssefian, Leila ; Harvey, Nailah ; Tavasoli, Ali Reza ; Saeidian, Amir Hossein ; Sotoudeh, Soheila ; Varghaei, Aida ; Mahmoudi, Hamidreza ; Mansouri, Parvin ; Mozafari, Nikoo ; Zargari, Omid ; Zeinali, Sirous ; Uitto, Jouni

Human mutation, 2022-12, Vol.43 (12), p.1706-1731 [Periódico revisado por pares]

United States: Hindawi Limited

Texto completo disponível

Citações Citado por
7
Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families
Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families
Material Type:
Artigo 		Adicionar ao Meu Espaço

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families

Ahmad, F. ; Shah, K. ; Umair, M. ; Jan, A. ; Irfanullah ; Khan, S. ; Muhammad, D. ; Basit, S. ; Wakil, S. M. ; Ramzan, K. ; Ahmad, W.

Clinical and experimental dermatology, 2018-08, Vol.43 (6), p.752-755 [Periódico revisado por pares]

England: Oxford University Press

Texto completo disponível

Citações Citado por
8
Therapeutic advances in muscular dystrophy
Therapeutic advances in muscular dystrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Therapeutic advances in muscular dystrophy

Leung, Doris G. ; Wagner, Kathryn R.

Annals of neurology, 2013-09, Vol.74 (3), p.404-411 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
9
Phenotypic spectrum associated with mutations in the fukutin-related protein gene
Phenotypic spectrum associated with mutations in the fukutin-related protein gene
Material Type:
Artigo 		Adicionar ao Meu Espaço

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

Mercuri, Eugenio ; Brockington, Martin ; Straub, Volker ; Quijano-Roy, Susana ; Yuva, Yeliz ; Herrmann, Ralf ; Brown, Susan C. ; Torelli, Silvia ; Dubowitz, Victor ; Blake, Derek J. ; Romero, Norma B. ; Estournet, Brigitte ; Sewry, Caroline A. ; Guicheney, Pascale ; Voit, Thomas ; Muntoni, Francesco

Annals of neurology, 2003-04, Vol.53 (4), p.537-542 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

Citações Citado por
10
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm

Luce, Leonela N. ; Ottaviani, Daniela ; Ferrer, Marcela ; Szijan, Irene ; Cotignola, Javier ; Giliberto, Florencia

Muscle & nerve, 2014-02, Vol.49 (2), p.249-256 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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 (1.246)

Data de Publicação 

De até
Refinar
  1. Antes de1980  (18)
  2. 1980Até1990  (100)
  3. 1991Até2001  (305)
  4. 2002Até2013  (589)
  5. Após 2013  (415)
  6. Mais opções open sub menu

Idioma 

  1. Japonês  (276)
  2. Alemão  (1)
  3. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.