Résultats de la recherche

  • Flux RSS
(1 - 20 of 26)

Pages

La révolution génomique du diagnostic des maladies rares. [Genomic revolution of rare disease diagnosis]
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
G-quadruplex RNA structure as a signal for neurite mRNA targeting
Adult centronuclear myopathies: A hospital-based study
Differentiating Alstrom from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways
Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

Pages