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Jorge Frank

Showing results (121-130 of 136) with videos related to

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The Journal of Investigative Dermatology|September 18, 2014
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamuraF Buket Basmanav, Günter Fritz, Gilles G Lestringant, et al.
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.
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.
The Journal of Investigative Dermatology|July 19, 2023
Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos DiseaseSheetal Kumar, Oleg Borisov, Carlo Maj, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis SimplexMaria-Teresa Romano, Aylar Tafazzoli, Maximilian Mattern, 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 the European Academy of Dermatology and Venereology : JEADV|October 5, 2022
Epidemiology of inherited epidermolysis bullosa in GermanyCristina Has, Moritz Hess, Waltraud Anemüller, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG|November 25, 2024
S2k guideline basal cell carcinoma of the skin (update 2023)Berenice M Lang, Panagiotis Balermpas, Andrea Bauer, et al.
The British Journal of Dermatology|September 6, 2023
Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair lossNicole Cesarato, Agnes Schwieger-Briel, Yasmina Gossmann, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG|February 15, 2019
S2k Guidelines for Cutaneous Basal Cell Carcinoma - Part 2: Treatment, Prevention and Follow-upBerenice M Lang, Panagiotis Balermpas, Andrea Bauer, et al.
Pageof 14

Showing results (121-130 of 136) with videos related to

Sort By:
Pageof 14
The Journal of Investigative Dermatology|September 18, 2014
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamuraF Buket Basmanav, Günter Fritz, Gilles G Lestringant, et al.
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.
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.
The Journal of Investigative Dermatology|July 19, 2023
Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos DiseaseSheetal Kumar, Oleg Borisov, Carlo Maj, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis SimplexMaria-Teresa Romano, Aylar Tafazzoli, Maximilian Mattern, 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 the European Academy of Dermatology and Venereology : JEADV|October 5, 2022
Epidemiology of inherited epidermolysis bullosa in GermanyCristina Has, Moritz Hess, Waltraud Anemüller, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG|November 25, 2024
S2k guideline basal cell carcinoma of the skin (update 2023)Berenice M Lang, Panagiotis Balermpas, Andrea Bauer, et al.
The British Journal of Dermatology|September 6, 2023
Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair lossNicole Cesarato, Agnes Schwieger-Briel, Yasmina Gossmann, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG|February 15, 2019
S2k Guidelines for Cutaneous Basal Cell Carcinoma - Part 2: Treatment, Prevention and Follow-upBerenice M Lang, Panagiotis Balermpas, Andrea Bauer, et al.
Pageof 14