Laboratoire de Génétique Médicale - LGM - UMRS1112

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Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome
OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexia
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation
A possible cranio-oro-facial phenotype in Cockayne syndrome
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy
Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress

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Islandora displays