The Distribution of Constitutional and Somatic Mutations in the Neurofibromatosis 2 Gene
Present Status of Outcome Prediction of Invasive Coronary Treatment by Using Genetic Markers
dbRIP: A Highly Integrated Database of Retrotransposon Insertion Polymorphisms in Humans†
Mechanisms of the Interaction Between Two ADAMTS13 Gene Mutations Leading to Severe Deficiency of Enzymatic Activity
Apolipoprotein (APOE) Gene Is Associated With Progression of Age-Related Macular Degeneration (AMD)
Comprehensive Mutation Analysis of GLDC, AMT, and GCSH in Nonketotic Hyperglycinemia
DLG5 Variants Contribute to Crohn Disease Risk in a Canadian Population
Molecular Diversity of Glanzmann Thrombasthenia in Southern India: New Insights Into mRNA Splicing and Structure-Function Correlations of αIIbβ3 Integrin ( ITGA2B, ITGB3 )
A Second-Site Mutation in the Initiation Codon of WAS (WASP) Results in Expansion of Subsets of Lymphocytes in an Wiskott-Aldrich Syndrome Patient
Determination of Genomic Copy Number With Quantitative Microsphere Hybridization
Functional Polymorphism in ALOX15 Results in Increased Allele-Specific Transcription in Macrophages Through Binding of the Transcription Factor SPI1
Distinct Patterns of Germ-Line Deletions in MLH1 and MSH2: The Implication of Alu Repetitive Element in the Genetic Etiology of Lynch Syndrome (HNPCC)
Trafficking-competent and Trafficking-defective KCNJ2 Mutations in Andersen Syndrome
Parental Mosaicism Can Cause Recurrent Transmission of SCN1A Mutations Associated With Severe Myoclonic Epilepsy of Infancy
Novel JARID1C/SMCX Mutations in Patients With X-linked Mental Retardation