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Human Mutation|October 6, 2009
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) geneDerek H K Lim, Pauline K Rehal, Michael S Nahorski, et al.Journal of the American Academy of Dermatology|December 25, 2019
Molecular testing in metastatic basal cell carcinomaBabette J A Verkouteren, Marlies Wakkee, Michel van Geel, et al.Experimental Dermatology|March 18, 2011
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypesEugene A de Zwart-Storm, Rafael F M Rosa, Patricia E Martin, et al.The Journal of Investigative Dermatology|July 8, 2011
Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyriaAnne Moniek van Tuyll van Serooskerken, Felix W de Rooij, Annie Edixhoven, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2018
Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skinEllen H J van den Bogaard, Michel van Geel, Ivonne M J J van Vlijmen-Willems, et al.Kidney International Reports|June 8, 2026
mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport SyndromeDipti Rao, Bartholomeus T van den Berge, Anneke T Vulto-van Silfhout, et al.Journal of Medical Genetics|January 11, 2015
Evidence of digenic inheritance in Alport syndromeMaria Antonietta Mencarelli, Laurence Heidet, Helen Storey, et al.Journal of Hepatology|December 3, 2014
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyriasXiaoye Schneider-Yin, Anne-Moon van Tuyll van Serooskerken, Marko Siegesmund, et al.Journal of Dermatological Science|March 4, 2026
Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratodermaVanya S V J Rossel, Jaap J A J van der Velden, Renske Janssen, et al.The Journal of Investigative Dermatology|March 9, 2023
Investigations into the FLG Null Phenotype: Showcasing the Methodology for CRISPR/Cas9 Editing of Human KeratinocytesJos P H Smits, Noa J M van den Brink, Luca D Meesters, et al.Pageof 6