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AbstractIn the International Visible Trait Genetics (VisiGen) Consortium, we investigated the genetics of human skin color by… Expand Cornelia de Lange syndrome (CdLS) is a rare multisystemic congenital anomaly disorder that is characterised by intellectual… Expand BACKGROUND
Although genetic studies have reported a number of loci associated with cutaneous melanoma (CM) risk, a comprehensive… Expand For many oncogenes, increased expression resulting from copy number gain confers a selective advantage to cells that consequently… Expand The immotile short-tail sperm defect is an autosomal recessive disease within the Finnish Yorkshire pig population. This disease… Expand Lung cancer is the most widely diagnosed malignancy in the world. Understanding early-stage disease will give insight into its… Expand We report on a 14‐year‐old boy who presented with bilateral cleft lip and palate, hearing loss, a language processing disorder… Expand Nine pineal parenchymal tumors were studied by comparative genomic hybridization. These consisted of three pineocytomas (WHO… Expand We have characterized NORPEG, a novel gene from human retinal pigment epithelial cells (ARPE-19), in which its expression is… Expand Cell cycle checkpoints are gating mechanisms that govern cell cycle progression in the presence of DNA damage and incomplete DNA… Expand