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The Journal of Investigative Dermatology|May 11, 2012
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal developmentVeronica A Kinsler, Sayeda Abu-Amero, Peter Budd, et al.The Journal of Investigative Dermatology|February 14, 2004
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndromeGabrielle H S Ashton, W H Irwin McLean, Andrew P South, et al.American Journal of Human Genetics|September 26, 2003
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosisSandra Hanks, Sarah Adams, Jenny Douglas, et al.The Journal of Investigative Dermatology|January 19, 2016
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal MelanocytosisAnna C Thomas, Zhiqiang Zeng, Jean-Baptiste Rivière, et al.Human Molecular Genetics|August 14, 2003
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndromeW H Irwin McLean, Alan D Irvine, Kevin J Hamill, et al.American Journal of Human Genetics|June 6, 2003
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndromeDawn H Siegel, Gabrielle H S Ashton, Homero G Penagos, et al.Pageof 2