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Identifying mutations in Tunisian families with retinal dystrophy

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Identifying mutations in Tunisian families with retinal dystrophy

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IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Genomics and transcriptomics of the Mycobacterium tuberculosis complex

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors

Systematic Inference of Copy-Number Genotypes from Personal Genome Sequencing Data Reveals Extensive Olfactory Receptor Gene Content Diversity

Early stirrings of landscape genomics: Awaiting next-next generation sequencing platforms before take-off

Bypass of the requirement for cdc16p GAP function in Schizosaccharomyces pombe by mutation of the septation initiation network genes

A statistical model to estimate variance in long term-low dose mutation assays: testing of the model in a human lymphoblastoid mutation assay