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Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.
Frommherz L, Komlosi K, Hewel C, Kopp J, Dewenter M, Zimmer A, Bartsch O, Linke M, Technau-Hafsi K, Gerber S, Fischer J, Has C. Frommherz L, et al. Among authors: komlosi k. J Eur Acad Dermatol Venereol. 2023 Apr;37(4):817-822. doi: 10.1111/jdv.18719. Epub 2022 Nov 17. J Eur Acad Dermatol Venereol. 2023. PMID: 36331357
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation.
Gucev Z, Tasic V, Bogevska I, Laban N, Saveski A, Polenakovic M, Plaseska-Karanfilska D, Komlosi K, Winter J, Schweiger S, Nishimura G, Spranger J, Bartsch O. Gucev Z, et al. Among authors: komlosi k. Eur J Med Genet. 2020 Jan;63(1):103613. doi: 10.1016/j.ejmg.2019.01.003. Epub 2019 Jan 21. Eur J Med Genet. 2020. PMID: 30677517
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. 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: komlosi k. Genes (Basel). 2021 Jan 9;12(1):80. doi: 10.3390/genes12010080. Genes (Basel). 2021. PMID: 33435499 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: komlosi k. Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483. Genes (Basel). 2021. PMID: 34680878 Free PMC article.
76 results