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The British Journal of Dermatology|January 23, 2023
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defectsAdam Jackson, Celia Moss, Kate E Chandler, et al.Nature Genetics|October 17, 2006
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychiaDiana C Blaydon, Yoshiyuki Ishii, Edel A O'Toole, et al.The British Journal of Dermatology|July 21, 2026
A National Epidemiological Study of Inherited Ichthyoses in England from 1998-2024Mark D Eisner, Maisie Blyth, Jennifer M Broughan, 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.HGG Advances|April 3, 2023
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, et al.Pharmacology & Therapeutics|May 30, 2018
Therapeutic targeting of cathepsin C: from pathophysiology to treatmentBrice Korkmaz, George H Caughey, Iain Chapple, et al.Archives of Dermatology|February 23, 2011
Harlequin ichthyosis: a review of clinical and molecular findings in 45 casesShefali Rajpopat, Celia Moss, Jemima Mellerio, et al.Journal of the American Academy of Dermatology|April 3, 2014
Inherited epidermolysis bullosa: updated recommendations on diagnosis and classificationJo-David Fine, Leena Bruckner-Tuderman, Robin A J Eady, et al.The British Journal of Dermatology|April 9, 2024
Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanismNivedita Sarveswaran, Yunisa Pamela, Akhila A N Reddy, et al.European Journal of Human Genetics : EJHG|September 13, 2023
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new familiesVani Jain, Seow Hoong Foo, Stephen Chooi, et al.Pageof 8