Mutations of Human Cationic Trypsinogen ( PRSS1 ) and Chronic Pancreatitis
Father-to-Daughter Transmission of Cornelia de Lange Syndrome Caused by a Mutation in the 5' Untranslated Region of the NIPBL Gene
Paternal Bias in Parental Origin of HRAS Mutations in Costello Syndrome
Characterization of CHEK2 Mutations in Prostate Cancer
Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: Population Heterogeneity of MCCA and MCCB Mutations and Impact on Risk Assessment
Identification and In Silico Analyses of Novel TGFBR1 and TGFBR2 Mutations in Marfan Syndrome-Related Disorders
TGFBR1 and TGFBR2 Mutations in Patients With Features of Marfan Syndrome and Loeys-Dietz Syndrome
Direct or Indirect Association in a Complex Disease: The Role of SLC22A4 and SLC22A5 Functional Variants in Crohn Disease
The Contribution of Genes Involved in Potassium-Recycling in the Inner Ear to Noise-Induced Hearing Loss
Mutational Spectrum and Genotype-Phenotype Correlations in Mevalonate Kinase Deficiency
Phenotypic Consequences of Branch Point Substitutions
MLPA: A Rapid, Reliable, and Sensitive Method for Detection and Analysis of Abnormalities of 22q
Semiquantitative Multiplex PCR: A Useful Tool for Large Rearrangement Screening and Characterization
Spectrum of Factor XI ( F11 ) Mutations in the UK Population - 116 Index Cases and 140 Mutations
V(D)J Recombinase Mediated Inter-Chromosomal HPRT Alterations at Cryptic Recombination Signal Sequences in Peripheral Human T Cells
Extensive Mutational Analysis of PRKCSH and SEC63 Broadens the Spectrum of Polycystic Liver Disease
Frequency and Localization of Mutations in the 106 Exons of the RYR1 Gene in 50 Individuals With Malignant Hyperthermia
Missense Mutation in the N -acetylglucosamine-1-phosphotransferase Gene ( GNPTA ) in a Patient With Mucolipidosis II Induces Changes in the Size and Cellular Distribution of GNPTG
Mutational Analysis of the ABCC6 Gene and the Proximal ABCC6 Gene Promoter in German Patients With Pseudoxanthoma Elasticum (PXE)
Molecular Dissection of the Y Chromosome Haplogroup E-M78 (E3b1a): A Posteriori Evaluation of a Microsatellite-Network-Based Approach Through Six New Biallelic Markers
Identification of Forty-Five Novel and Twenty-Three Known NF1 Mutations in Chinese Patients With Neurofibromatosis Type 1