Résultats de la recherche

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Autosomal mutations and human spermatogenic failure
Defective membrane remodeling in neuromuscular diseases: insights from animal models
Heterochromatin establishment at pericentromeres depends on nuclear position
Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths
Orthology prediction methods: a quality assessment using curated protein families
Identifying single copy orthologs in Metazoa
Value of MRI Olfactory Bulb evaluation in the assessment of olfactory dysfunction in Bardet Biedl syndrome
MSV3d: database of human MisSense Variants mapped to 3D protein structure
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
VaRank: a simple and powerful tool for ranking genetic variants
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
Alstrom Syndrome: Mutation Spectrum of ALMS1
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
Chromatin-remodeling factor Brg1 is required for Schwann cell differentiation and myelination
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation
eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)

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