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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: tzschach a. 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: tzschach a. Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483. Genes (Basel). 2021. PMID: 34680878 Free PMC article.
Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Göbel T, Berninger L, Schlump A, Feige B, Runge K, Nickel K, Schiele MA, van Elst LT, Hotz A, Alter S, Domschke K, Tzschach A, Endres D. Göbel T, et al. Among authors: tzschach a. J Neural Transm (Vienna). 2022 Nov;129(11):1387-1391. doi: 10.1007/s00702-022-02544-y. Epub 2022 Oct 7. J Neural Transm (Vienna). 2022. PMID: 36205783 Free PMC article.
Deep clinical phenotyping of patients with obsessive-compulsive disorder: an approach towards detection of organic causes and first results.
Runge K, Reisert M, Feige B, Nickel K, Urbach H, Venhoff N, Tzschach A, Schiele MA, Hannibal L, Prüss H, Domschke K, Tebartz van Elst L, Endres D. Runge K, et al. Among authors: tzschach a. Transl Psychiatry. 2023 Mar 7;13(1):83. doi: 10.1038/s41398-023-02368-8. Transl Psychiatry. 2023. PMID: 36882422 Free PMC article.
Sema3a plays a role in the pathogenesis of CHARGE syndrome.
Ufartes R, Schwenty-Lara J, Freese L, Neuhofer C, Möller J, Wehner P, van Ravenswaaij-Arts CMA, Wong MTY, Schanze I, Tzschach A, Bartsch O, Borchers A, Pauli S. Ufartes R, et al. Among authors: tzschach a. Hum Mol Genet. 2018 Apr 15;27(8):1343-1352. doi: 10.1093/hmg/ddy045. Hum Mol Genet. 2018. PMID: 29432577
Mirror-image asymmetry in monozygotic twins with kabuki syndrome.
Riess A, Dufke A, Riess O, Beck-Woedl S, Fode B, Skladny H, Klaes R, Tzschach A. Riess A, et al. Among authors: tzschach a. Mol Syndromol. 2012 Aug;3(2):94-7. doi: 10.1159/000341251. Epub 2012 Jul 25. Mol Syndromol. 2012. PMID: 23326255 Free PMC article.
145 results