Functional In Vitro Characterization of 14 SMPD1 Mutations Identified in Italian Patients Affected by Niemann Pick Type B Disease
Rapid Recognition of Aberrant dHPLC Elution Profiles Using the Transgenomic Navigator™ Software
3-Methylcrotonyl-CoA Carboxylase Deficiency: Mutation Analysis in 28 Probands, 9 Symptomatic and 19 Detected by Newborn Screening
Dysferlin Mutations in LGMD2B, Miyoshi Myopathy, and Atypical Dysferlinopathies
LOVD: Easy Creation of a Locus-Specific Sequence Variation Database Using an “LSDB-in-a-Box” Approach
dbQSNP: A Database of SNPs in Human Promoter Regions With Allele Frequency Information Determined by Single-Strand Conformation Polymorphism-Based Methods
Novel Rearrangement of Chromosome Band 22q11.2 Causing 22q11 Microdeletion Syndrome- Like Phenotype and Rhabdoid Tumor of the Kidney
Identification and Analysis of 21 Novel Disease-Causing Amino Acid Substitutions in the Conserved Part of ATP7A
Evaluation of the Molecular Mechanisms Involved in the Gain of Function of a Li-Fraumeni TP53 Mutation
Complexity of the Genotype-Phenotype Correlation in Familial Exudative Vitreoretinopathy With Mutations in the LRP5 and/or FZD4 Genes
Twenty-Six Novel EFNB1 Mutations in Familial and Sporadic Craniofrontonasal Syndrome (CFNS)
BMPR2 Mutations Have Short Lifetime Expectancy in Primary Pulmonary Hypertension
Complex Gene Rearrangements Caused by Serial Replication Slippage
Hereditary Angioedema: The Mutation Spectrum of SERPING1/C1NH in a Large Spanish Cohort
Assessment of Multiple Displacement Amplification for Polymorphism Discovery and Haplotype Determination at a Highly Polymorphic Locus, MC1R
A Rapid Microarray Based Whole Genome Analysis for Detection of Uniparental Disomy
The 2004 Human Genome Variation Society Scientific Meeting