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Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly
The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions
Erratum: Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population
Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population
