Résultats de la recherche

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(1 - 18 of 18)
VaRank: a simple and powerful tool for ranking genetic variants
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom syndromes
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.
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
Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar
Mutations in TUBGCP4 alter microtubule organization via the gamma-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
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
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

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