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Journal of Cellular and Molecular Medicine|February 18, 2009
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stressValerie L R M Verstraeten, Sandrine Caputo, Maurice A M van Steensel, et al.Human Molecular Genetics|June 21, 2013
Birt-Hogg-Dube syndrome is a novel ciliopathyMonique N H Luijten, Sander G Basten, Tijs Claessens, et al.Human Molecular Genetics|May 10, 2018
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotypeIvo J H M de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, et al.Nature Genetics|April 10, 2007
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczemaAileen Sandilands, Ana Terron-Kwiatkowski, Peter R Hull, et al.The British Journal of Dermatology|August 20, 2022
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndromeYanshan Liu, Siddharth Banka, Yingzhi Huang, et al.Orphanet Journal of Rare Diseases|November 6, 2024
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findingsKatarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Katarzyna Woźniak, et al.Nature Genetics|January 6, 2009
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosisYaran Wen, Yang Liu, Yiming Xu, et al.Pageof 6