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The Journal of Clinical Investigation|March 14, 2017
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversaDamian J Ralser, F Buket Ü Basmanav, Aylar Tafazzoli, et al.
American Journal of Human Genetics|May 4, 2000
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3R C Betz, Y A Lee, A Bygum, et al.
Nature Genetics|June 30, 2001
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle diseaseR C Betz, B G Schoser, D Kasper, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 28, 2020
Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosisLiron Malki, Ofer Sarig, Nicole Cesarato, et al.
Archives of Dermatological Research|November 6, 2012
Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair lossHassnaa Mahmoudi, Silke Redler, Pattie Birch, et al.
The British Journal of Dermatology|February 8, 2012
Investigation of the male pattern baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female pattern hair lossS Redler, F F Brockschmidt, R Tazi-Ahnini, et al.
American Journal of Human Genetics|December 21, 2010
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosisEva Klopocki, Silke Lohan, Francesco Brancati, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|January 25, 2023
Exploring the overlap between alopecia areata and major depressive disorder: Epidemiological and genetic perspectivesJ C Foo, S Redler, A J Forstner, et al.
Nature Genetics|May 20, 2003
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosinEtgar Levy-Nissenbaum, Regina C Betz, Moshe Frydman, et al.
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