Human Mutation

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR

Variants inTNFRSF5 locus and association analysis with Hepatitis B virus (HBV) infection

Clinical and molecular basis of classical lissencephaly: Mutations in theLIS1 gene (PAFAH1B1)

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family

Bridging structural biology and genetics by computational methods: An investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome

Bridging structural biology and genetics by computational methods: An investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome

BRCA1 andBRCA2 sequence variants in Chinese breast cancer families

BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic

BRCA1 and BRCA2 in Indian breast cancer patients

Biallelic variants in

Approaches to identify genes for complex human diseases: Lessons from Mendelian disorders

Approaches for analyzing human mutations and nucleotide sequence variation: A report from the Seventh International Mutation Detection meeting, 2003