In Memoriam: Victor A. McKusick (1921-2008)
Dynamic Nature of the Proximal AZFc Region of the Human Y Chromosome: Multiple Independent Deletion and Duplication Events Revealed by Microsatellite Analysis
Complex Signatures of Locus-Specific Selective Pressures and Gene Conversion on Human Growth Hormone/Chorionic Somatomammotropin Genes
Persistence of Repair Proteins at Unrepaired DNA Damage Distinguishes Diseases with ERCC2 (XPD) Mutations: Cancer-Prone Xeroderma Pigmentosum vs. Non-Cancer-Prone Trichothiodystrophy
An Unusual Haplotype Structure on Human Chromosome 8p23 Derived From the Inversion Polymorphism
Further Evidence for Allelic Heterogeneity in Hartnup Disorder
Investigation of Citrullinemia Type I Variants by In Vitro Expression Studies
Mutations in CNGA3 Impair Trafficking or Function of Cone Cyclic Nucleotide-Gated Channels, Resulting in Achromatopsia
Mutational Spectrum of the Oral-Facial-Digital Type I Syndrome: A Study on a Large Collection of Patients
High-Resolution Mapping of the 8p23.1 Beta-Defensin Cluster Reveals Strictly Concordant Copy Number Variation of All Genes
Rapid Detection of Methylation Change at H19 in Human Imprinting Disorders Using Methylation-Sensitive High-Resolution Melting