Molecular Diagnosis of Inherited Disorders: Lessons From Hemoglobinopathies
Correlations Between Genotype and Pharmacological, Histological, Functional, and Clinical Phenotypes in Malignant Hyperthermia Susceptibility
Molecular Characterization of a t(2;6) Balanced Translocation That Is Associated With a Complex Phenotype and Leads to Truncation of the TCBA1 Gene
Spectrum of Gross Deletions and Insertions in the RB1 Gene in Patients With Retinoblastoma and Association With Phenotypic Expression
Predicting the Oncogenicity of Missense Mutations Reported in the International Agency for Cancer Research (IARC) Mutation Database on p53
Role of the 2 Adenine (g.11293_11294insAA) Insertion Polymorphism in the 3' Untranslated Region of the Factor VII (FVII) Gene: Molecular Characterization of a Patient With Severe FVII Deficiency
Estimation of the Frequency of Occult Mutations for an Autosomal Recessive Disease in the Presence of Genetic Heterogeneity: Application to Genetic Hearing Loss Disorders
Statistical Geometry Approach to the Study of Functional Effects of Human Nonsynonymous SNPs
Detection of Cryptic Subtelomeric Chromosome Abnormalities and Identification of Anonymous Chromatin Using a Quantitative Multiplex Ligation-Dependent Probe Amplification (MLPA) Assay
Expression of NF1 Pseudogenes
Locus-Specific Databases: From Ethical Principles to Practice
Identification of Sixty-two Novel and Twelve Known FBN1 Mutations in Eighty-one Unrelated Probands With Marfan Syndrome and Other Fibrillinopathies
Genetic Variant Characterization In Intron 4 of the Surfactant Protein B Gene
Molecular Characterization and Cancer Risk Associated With BRCA1 and BRCA2 Splice Site Variants Identified in Multiple-Case Breast Cancer Families
The Mutational Spectrum of ENPP1 as Arising After the Analysis of 23 Unrelated Patients With Generalized Arterial Calcification of Infancy (GACI)
Nine Mutations Including Three Novel Mutations Among Russian Patients With Acute Intermittent Porphyria
The First Missense Alteration in the MCPH1 Gene Causes Autosomal Recessive Microcephaly With an Extremely Mild Cellular and Clinical Phenotype
Novel Mutations of the PCSK9 Gene Cause Variable Phenotype of Autosomal Dominant Hypercholesterolemia