Résultats de la recherche

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Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

Islandora displays