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Defective membrane remodeling in neuromuscular diseases: insights from animal models
Autosomal mutations and human spermatogenic failure
Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths
Identifying single copy orthologs in Metazoa
Orthology prediction methods: a quality assessment using curated protein families
Heterochromatin establishment at pericentromeres depends on nuclear position
Single-cell profiling of epigenetic modifiers identifies PRDM14 as an inducer of cell fate in the mammalian embryo
VaRank: a simple and powerful tool for ranking genetic variants
The AP-1 transcription factor c-Jun prevents stress-imposed maladaptive remodeling of the heart
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
MSV3d: database of human MisSense Variants mapped to 3D protein structure
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
SCA13 causes dominantly inherited non-progressive myoclonus ataxia.
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation
eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges
Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family
DPY19L2 deletion as a major cause of globozoospermia
Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome

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