Résultats de la recherche

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Autosomal mutations and human spermatogenic failure
Defective membrane remodeling in neuromuscular diseases: insights from animal models
Orthology prediction methods: a quality assessment using curated protein families
Identifying single copy orthologs in Metazoa
Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths
Heterochromatin establishment at pericentromeres depends on nuclear position
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
The AP-1 transcription factor c-Jun prevents stress-imposed maladaptive remodeling of the heart
Single-cell profiling of epigenetic modifiers identifies PRDM14 as an inducer of cell fate in the mammalian embryo
MSV3d: database of human MisSense Variants mapped to 3D protein structure
VaRank: a simple and powerful tool for ranking genetic variants
Value of MRI Olfactory Bulb evaluation in the assessment of olfactory dysfunction in Bardet Biedl syndrome
DPY19L2 deletion as a major cause of globozoospermia
SCA13 causes dominantly inherited non-progressive myoclonus ataxia.
Alstrom Syndrome: Mutation Spectrum of ALMS1
Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family
Chromatin-remodeling factor Brg1 is required for Schwann cell differentiation and myelination
Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome
eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

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