Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16
Leukocyte cDNA Analysis of NSD1 Derived from Confirmed Sotos Syndrome Patients
The Impact of BRCA1 on Spina Bifida Meningomyelocele Lesions
Founder Effect of the 669insA Mutation in BSCL2 Gene Causing Berardinelli-Seip Congenital Lipodystrophy in a Cluster from Brazil
Sex-Specific Effects of AGT-6 and ACE I/D on Pulse Pressure After 6 Months on Antihypertensive Treatment
Evaluation of the Thyroid Transcription Factor-1 Gene (TITF1) as a Hirschsprung's Disease Locus
Persistence of the Common Hartnup Disease D173N Allele in Populations of European Origin
Variation in 5′ Promoter Region of the APOE gene Contributes to Predicting Ischemic Heart Disease (IHD) in the Population at Large
Association of Microsatellite Polymorphisms of the Human 14q13.2 Region with Type 2 Diabetes Mellitus in Latvian and Finnish Populations
No Association of the ACTN3 Gene R577X Polymorphism with Endurance Performance in Ironman Triathlons
Mitochondrial and Y Chromosome Diversity in the English-Speaking Caribbean
Migration Rates and Genetic Structure of two Hungarian Ethnic Groups in Transylvania, Romania
A Novel Approach to Detect Parent-of-Origin Effects from Pedigree Data with Application to Beckwith-Wiedemann Syndrome
Fine Mapping of Disease Genes Using Tagging SNPs
Sample Size Needed to Detect Gene-Gene Interactions Using Linkage Analysis
Interleukin 6 Variable Number of Tandem Repeats (VNTR) Gene Polymorphism in Centenarians