Résultats de la recherche

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Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome.
Albinism in a patient with mutations at both the OA1 and OCA3 loci
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom syndromes
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

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