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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
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways
Differentiating Alstrom from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10
Fragile X syndrome
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

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