Laboratoire de Génétique Médicale - LGM - UMRS1112

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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Albinism in a patient with mutations at both the OA1 and OCA3 loci
Alstrom Syndrome: Mutation Spectrum of ALMS1
Amelogenesis Imperfecta : 1 Family, 2 Phenotypes, and 2 Mutated Genes
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort
Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption
BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
Cockayne syndrome: the expanding clinical and mutational spectrum
Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice
Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: a multicentric genotype-phenotype study.

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