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XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
VaRank: a simple and powerful tool for ranking genetic variants
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
DPY19L2 deletion as a major cause of globozoospermia
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom syndromes
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

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