Résultats de la recherche

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(1 - 6 of 6)
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

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