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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
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
Adult centronuclear myopathies: A hospital-based study
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
Fragile X syndrome
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom syndromes
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

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