The PAH Gene, Phenylketonuria, and a Paradigm Shift
Progranulin Null Mutations in Both Sporadic and Familial Frontotemporal Dementia
Large-Scale Population-Based Metabolic Phenotyping of Thirteen Genetic Polymorphisms Related to One-Carbon Metabolism
Type 1 Gaucher Disease: Null and Hypomorphic Novel Chitotriosidase Mutations—Implications for Diagnosis and Therapeutic Monitoring
Double De Novo Mutations of ELA2 in Cyclic and Severe Congenital Neutropenia
Increased Progerin Expression Associated With Unusual LMNA Mutations Causes Severe Progeroid Syndromes
Functional Characterization of Missense Variants in the Creatine Transporter Gene ( SLC6A8 ): Improved Diagnostic Application
Mutational Analysis of 105 Mucopolysaccharidosis Type VI Patients
Clinical, Biochemical, and Mutational Spectrum of Peroxisomal Acyl-Coenzyme A Oxidase Deficiency
Determination of Haplotypes from Single DNA Molecules: A Method for Single-Molecule Barcoding
Novel PlexorTM SNP Genotyping Technology: Comparisons With TaqMan® and Homogenous MassEXTENDTM MALDI-TOF Mass Spectrometry
Multiple Sulfatase Deficiency is Due to Hypomorphic Mutations of the SUMF1 Gene
The Importance of Mutation Detection in Marfan Syndrome and Marfan-Related Disorders: Report of 193 FBN1 Mutations