Résultats de la recherche

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VaRank: a simple and powerful tool for ranking genetic variants
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

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