Sodium Channel Gene (SCN5A) Mutations in 44 Index Patients with Brugada Syndrome: Different Incidences in Familial and Sporadic Disease
Identification of Nine Novel DHCR 7 Missense Mutations in Patients with Smith-Lemli-Opitz Syndrome (SLOS)
Novel COL4A5, COL4A4, and COL4A3 Mutations in Alport Syndrome
Mutation Analysis of the GJB2 (Connexin 26) Gene in Egypt
Sarcoglycanopathies and the Risk of Undetected Deletion Alleles in Diagnosis
Novel Mutations in Type 2 Gaucher Disease in Chinese and Their Functional Characterization by Heterologous Expression
Sjögren-Larsson Syndrome: Diversity of Mutations and Polymorphisms in the Fatty Aldehyde Dehydrogenase Gene (ALDH3A2)
InSNP: A Tool for Automated Detection and Visualization of SNPs and InDels
Niemann-Pick Type C Disease: Subcellular Location and Functional Characterization of NPC2 Proteins With Naturally Occurring Missense Mutations
TNF Polymorphisms in Alzheimer Disease and Functional Implications on CSF Beta-Amyloid Levels
The Phenotypic Spectrum of COL2A1 Mutations
Alteration of DNA Binding, Dimerization, and Nuclear Translocation of SHOX Homeodomain Mutations Identified in Idiopathic Short Stature and Leri-Weill Dyschondrosteosis
Determination of Variants in the 3′-Region of the Tyrosinase Gene Requires Locus Specific Amplification