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Year Number of Results
2013 2
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2018 2
2019 1
2020 1
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2023 4
2024 2

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Page 1
Epidemiology of inherited epidermolysis bullosa in Germany.
Has C, Hess M, Anemüller W, Blume-Peytavi U, Emmert S, Fölster-Holst R, Frank J, Giehl K, Günther C, Hammersen J, Hillmann K, Höflein B, Hoeger PH, Hotz A, Mai TA, Oji V, Schneider H, Süßmuth K, Tantcheva-Póor I, Thielking F, Zirn B, Fischer J, Reimer-Taschenbrecker A. Has C, et al. Among authors: hotz a. J Eur Acad Dermatol Venereol. 2023 Feb;37(2):402-410. doi: 10.1111/jdv.18637. Epub 2022 Nov 1. J Eur Acad Dermatol Venereol. 2023. PMID: 36196047
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J. Hotz A, et al. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. Genes (Basel). 2023. PMID: 36980989 Free PMC article.
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: hotz a. 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. Genes (Basel). 2021 Jan 9;12(1):80. doi: 10.3390/genes12010080. Genes (Basel). 2021. PMID: 33435499 Free PMC article.
Microdeletion 5q14.3 and anomalies of brain development.
Hotz A, Hellenbroich Y, Sperner J, Linder-Lucht M, Tacke U, Walter C, Caliebe A, Nagel I, Saunders DE, Wolff G, Martin P, Morris-Rosendahl DJ. Hotz A, et al. Am J Med Genet A. 2013 Sep;161A(9):2124-33. doi: 10.1002/ajmg.a.36020. Epub 2013 Jul 4. Am J Med Genet A. 2013. PMID: 23824879
18 results