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The Journal of Dermatology|September 5, 2025
Reduction in Dressing Change Burden in Patients With Epidermolysis Bullosa-Impact of Oleogel-S10Anna L Bruckner, Dédée Murrell, Lara Wine Lee, et al.
The Journal of Investigative Dermatology|March 22, 2003
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5Eli Sprecher, Gil Yosipovitch, Reuven Bergman, et al.
The Journal of Investigative Dermatology|September 17, 2002
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genesEli Sprecher, Peter Itin, Neil V Whittock, et al.
Iscience|September 25, 2023
Nurturing next generation physicians: A new Israeli healthtech fellowshipMichal Rosen-Zvi, Motti Frimer, Aviv Shoher, et al.
Archives of Dermatological Research|March 21, 2007
Identification of mutations in the human hairless gene in two new families with congenital atrichiaRegina C Betz, Margarita Indelman, Jana Pforr, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 16, 2022
Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratodermaKiril Malovitski, Ofer Sarig, Sari Assaf, et al.
Human Genetics|September 10, 2005
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcificationIlana Chefetz, Raoul Heller, Assimina Galli-Tsinopoulou, et al.
The Journal of Investigative Dermatology|November 16, 2025
Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopeciaNoy Keller-Rosenthal, Ofer Sarig, Moshe Giladi, et al.
The Journal of Investigative Dermatology|June 19, 2009
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growthSandra M Pasternack, Ivar von Kügelgen, Melanie Müller, et al.
Journal of the American Academy of Dermatology|August 16, 2006
Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populationsMordechai Mizrachi-Koren, Saar Shemer, Michal Morgan, et al.
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