Laboratoire de Génétique Médicale - LGM - UMRS1112

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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
BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response
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
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: a multicentric genotype-phenotype study.
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome

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