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A Family with Palmar and Plantar Hyperkeratosis: A Quiz.
Juratli HA, Jägle S, Happle R, Avci P, Didona D, Fischer J. Juratli HA, et al. Among authors: fischer j. Acta Derm Venereol. 2020 Feb 27;100(4):adv00064. doi: 10.2340/00015555-3419. Acta Derm Venereol. 2020. PMID: 32052849 Free PMC article.
Recurrent MVD mutation in European patients with disseminated porokeratosis.
Saleva-Stateva M, Technau-Hafsi K, Frommherz L, Grüninger G, Jägle S, Dourmishev L, Miteva L, Fischer J, Has C. Saleva-Stateva M, et al. Among authors: fischer j. Br J Dermatol. 2021 Feb;184(2):347-348. doi: 10.1111/bjd.19467. Epub 2020 Sep 16. Br J Dermatol. 2021. PMID: 32767669 No abstract available.
Neonatal presentation of COG6-CDG with prominent skin phenotype.
Komlosi K, Gläser S, Kopp J, Hotz A, Alter S, Zimmer AD, Beger C, Heinzel S, Schmidt C, Fischer J. Komlosi K, et al. Among authors: fischer j. JIMD Rep. 2020 Aug 7;55(1):51-58. doi: 10.1002/jmd2.12154. eCollection 2020 Sep. JIMD Rep. 2020. PMID: 32905044 Free PMC article.
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz A, Kopp J, Bourrat E, Oji V, Komlosi K, Giehl K, Bouadjar B, Bygum A, Tantcheva-Poor I, Hellström Pigg M, Has C, Yang Z, Irvine AD, Betz RC, Zambruno G, Tadini G, Süßmuth K, Gruber R, Schmuth M, Mazereeuw-Hautier J, Jonca N, Guez S, Brena M, Hernandez-Martin A, van den Akker P, Bolling MC, Hannula-Jouppi K, Zimmer AD, Alter S, Vahlquist A, Fischer J. Hotz A, et al. Among authors: fischer j. Genes (Basel). 2021 Jan 9;12(1):80. doi: 10.3390/genes12010080. Genes (Basel). 2021. PMID: 33435499 Free PMC article.
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin.
Jägle S, Juratli HA, Hickman G, Süssmuth K, Boente MC, Kopp J, Kirchmeier P, Zimmer A, Happle R, Bourrat E, Hamm H, Fischer J. Jägle S, et al. Among authors: fischer j. Acta Derm Venereol. 2021 Feb 16;101(2):adv00397. doi: 10.2340/00015555-3753. Acta Derm Venereol. 2021. PMID: 33491095 Free PMC article.
The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
Resch LD, Hotz A, Zimmer AD, Komlosi K, Singh N, Tzschach A, Windfuhr-Blum M, Juhasz-Boess I, Erbes T, Fischer J, Alter S. Resch LD, et al. Among authors: fischer j. Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483. Genes (Basel). 2021. PMID: 34680878 Free PMC article.
5,853 results