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Journal of the American Academy of Dermatology|March 21, 2006
Familial aggregation of alopecia areataBettina Blaumeiser, Ineke van der Goot, Rolf Fimmers, et al.
Human Genome Variation|April 13, 2026
Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspotSheetal Kumar, Sohail Ahmed, Pietro Incardona, et al.
American Journal of Human Genetics|September 25, 2012
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-BrauerKathrin A Giehl, Gertrud N Eckstein, Sandra M Pasternack, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG|June 20, 2024
Gene expression profiling in porocarcinoma indicates heterogeneous tumor development and substantiates poromas as precursor lesionsSvenja Holst, Anna K Weber, Friedegund Meier, et al.
The British Journal of Dermatology|November 22, 2007
The R620W polymorphism in PTPN22 confers general susceptibility for the development of alopecia areataR C Betz, K König, A Flaquer, et al.
American Journal of Human Genetics|April 14, 2009
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress responseFrank Oeffner, Gayle Fischer, Rudolf Happle, et al.
Nature Genetics|February 26, 2008
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growthSandra M Pasternack, Ivar von Kügelgen, Khalid Al Aboud, et al.
The British Journal of Dermatology|August 18, 2012
Investigation of selected cytokine genes suggests that IL2RA and the TNF/LTA locus are risk factors for severe alopecia areataS Redler, F Albert, F F Brockschmidt, et al.
Acta Dermato-Venereologica|September 14, 2020
Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on SplicingSyed Ashraf Uddin, Nicole Cesarato, Aytaj Humbatova, et al.
American Journal of Human Genetics|December 19, 2012
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplexSandra M Pasternack, Melanie Refke, Elham Paknia, et al.
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