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New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.
Endres D, Süß P, Maier SJ, Friedel E, Nickel K, Ziegler C, Fiebich BL, Glocker FX, Stock F, Egger K, Lange T, Dacko M, Venhoff N, Erny D, Doostkam S, Komlosi K, Domschke K, Tebartz van Elst L. Endres D, et al. Among authors: komlosi k. Front Immunol. 2019 Mar 21;10:412. doi: 10.3389/fimmu.2019.00412. eCollection 2019. Front Immunol. 2019. PMID: 30949164 Free PMC article.
New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation.
Endres D, Decher N, Röhr I, Vowinkel K, Domschke K, Komlosi K, Tzschach A, Gläser B, Schiele MA, Runge K, Süß P, Schuchardt F, Nickel K, Stallmeyer B, Rinné S, Schulze-Bahr E, Tebartz van Elst L. Endres D, et al. Among authors: komlosi k. Int J Mol Sci. 2020 Nov 15;21(22):8611. doi: 10.3390/ijms21228611. Int J Mol Sci. 2020. PMID: 33203140 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.
Editorial: Copy Number Variation in Rare Disorders.
Komlósi K, Gyenesei A, Bene J. Komlósi K, et al. Front Genet. 2022 Apr 5;13:898059. doi: 10.3389/fgene.2022.898059. eCollection 2022. Front Genet. 2022. PMID: 35450215 Free PMC article. No abstract available.
76 results