Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Read more about Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Read more about Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease.
A lentivirus-based system to functionally silence genes in primary mammalian cells, stem cells and transgenic mice by RNA interference. Read more about A lentivirus-based system to functionally silence genes in primary mammalian cells, stem cells and transgenic mice by RNA interference.
Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa. Read more about Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa.
RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. Read more about RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases.
Integrated Genomic and Epigenomic Analyses Pinpoint Bialelic Gene Inactivation in Tumors Read more about Integrated Genomic and Epigenomic Analyses Pinpoint Bialelic Gene Inactivation in Tumors
Integrated genomic and epigenomic analyses pinpoint biallelic gene inactivation in tumors. Read more about Integrated genomic and epigenomic analyses pinpoint biallelic gene inactivation in tumors.
Large-scale prediction of Saccharomyces cerevisiae gene function using overlapping transcriptional clusters. Read more about Large-scale prediction of Saccharomyces cerevisiae gene function using overlapping transcriptional clusters.
Mutations in SUFU predispose to medulloblastoma. Read more about Mutations in SUFU predispose to medulloblastoma.