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Page 1
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Arash-Kaps L, Komlosi K, Seegräber M, Diederich S, Paschke E, Amraoui Y, Beblo S, Dieckmann A, Smitka M, Hennermann JB. Arash-Kaps L, et al. Among authors: komlosi k. J Pediatr. 2019 Dec;215:152-157.e3. doi: 10.1016/j.jpeds.2019.08.016. J Pediatr. 2019. PMID: 31761138
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. Among authors: komlosi k. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. Genes (Basel). 2023. PMID: 36980989 Free PMC article.
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
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.
Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.
Hake L, Süßmuth K, Komlosi K, Kopp J, Drerup C, Metze D, Traupe H, Hausser I, Eckl KM, Hennies HC, Fischer J, Oji V. Hake L, et al. Among authors: komlosi k. J Eur Acad Dermatol Venereol. 2022 Apr;36(4):582-591. doi: 10.1111/jdv.17873. Epub 2022 Jan 13. J Eur Acad Dermatol Venereol. 2022. PMID: 34908195
79 results