Multiple Displacement Amplification To Create a Long-Lasting Source of DNA for Genetic Studies
TGFBI Gene Mutations in Corneal Dystrophies
Mutations and Polymorphisms in the Human Ornithine Transcarbamylase ( OTC ) Gene
Mutations and Polymorphisms in the Human Ornithine Transcarbamylase ( OTC ) : Gene
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) Gene Cause Autosomal Recessive Nonsyndromic Hearing Loss
A Homozygous Nonsense Mutation in the Methylmalonyl-CoA Epimerase Gene ( MCEE ) Results in Mild Methylmalonic Aciduria
Variation in Retinitis Pigmentosa-11 ( PRPF31 or RP11 ) Gene Expression Between Symptomatic and Asymptomatic Patients With Dominant RP11 Mutations
A DGGE System for Comprehensive Mutation Screening of BRCA1 and BRCA2: : Application in a Dutch Cancer Clinic Setting
Novel Mutations in ENG and ACVRL1 Identified in a Series of 200 Individuals Undergoing Clinical Genetic Testing for Hereditary Hemorrhagic Telangiectasia (HHT) : Correlation of Genotype With Phenotype
Detection of 95 Novel Mutations in Coagulation Factor VIII Gene F8 Responsible for Hemophilia A : Results from a Single Institution
Mean Age-of-Onset of Familial Alzheimer Disease Caused by Presenilin Mutations Correlates With Both Increased Aβ42 and Decreased Aβ40
High Efficiency of Mutation Detection in Type 1 Stickler Syndrome Using a Two-Stage Approach : Vitreoretinal Assessment Coupled With Exon Sequencing for Screening COL2A1
Mutations in Two Regions of FLNB Result in Atelosteogenesis I and III
A Quality Assessment Survey of SNP Genotyping Laboratories
In Vitro Analysis of Genomic Instability Triggered by BRCA1 Missense Mutations
Mutational Spectrum of Maple Syrup Urine Disease in Spain
The Heterogeneous Nature of Germline Mutations in NF1 Patients With Malignant Peripheral Serve Sheath Tumours (MPNSTs)
Mutation Analysis of COL1A1 and COL1A2 in Patients Diagnosed With Osteogenesis Imperfecta Type I-IV
A New Large CFTR Rearrangement Illustrates the Importance of Searching for Complex Alleles
Genetic Variability, Haplotypes, and htSNPs for Exons 1 at the Human UGT1A Locus
Identification of a Novel Mutation of SH3BP2 in Cherubism and Demonstration that SH3BP2 Mutations Lead to Increased NFAT Activation
McArdle Disease : The Mutation Spectrum of PYGM in a Large Italian Cohort
Werner Syndrome and Mutations of the WRN and LMNA Genes in France
A Common Mutation in the CBS Gene Explains a High Incidence of Homocystinuria in the Qatari Population
Novel and Recurrent Mutations in Keratin KRT5 and KRT14 Genes in Epidermolysis Bullosa Simplex : Implications for Disease Phenotype and Keratin Filament Assembly
Sub-Saharan African Coding Sequence Variation and Haplotype Diversity at the NAT2 Gene