Showing results (471-480 of 525) with videos related to
Sort By:
Pageof 53
European Journal of Human Genetics : EJHG|April 21, 2001
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratodermaD M Hunt, L Rickman, N V Whittock, et al.American Journal of Human Genetics|March 11, 2000
Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mappingS Chavanas, C Garner, C Bodemer, et al.Plos One|September 19, 2015
Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis BullosaStephen A Watt, Jasbani H S Dayal, Sheila Wright, 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|January 24, 2012
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndromeDiana C Blaydon, Sarah L Etheridge, Janet M Risk, et al.Nature Reviews. Genetics|August 19, 2021
Opportunities and challenges of macrogenetic studiesDeborah M Leigh, Charles B van Rees, Katie L Millette, et al.Journal of the American Academy of Dermatology|August 16, 2023
Transcriptomic analysis of cutaneous squamous cell carcinoma reveals a multigene prognostic signature associated with metastasisJun Wang, Catherine A Harwood, Emma Bailey, et al.Nature Genetics|August 1, 1996
Plectin deficiency results in muscular dystrophy with epidermolysis bullosaF J Smith, R A Eady, I M Leigh, et al.Oncogene|May 24, 2011
Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinomaS A Watt, C Pourreyron, K Purdie, et al.The Journal of Investigative Dermatology|March 26, 2014
NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesisAndrew P South, Karin J Purdie, Stephen A Watt, et al.Pageof 53