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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.
Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.
Gieldon L, Masjkur JR, Richter S, Därr R, Lahera M, Aust D, Zeugner S, Rump A, Hackmann K, Tzschach A, Januszewicz A, Prejbisz A, Eisenhofer G, Schrock E, Robledo M, Klink B. Gieldon L, et al. Among authors: tzschach a. Eur J Endocrinol. 2018 Feb;178(2):K1-K9. doi: 10.1530/EJE-17-0714. Epub 2017 Nov 20. Eur J Endocrinol. 2018. PMID: 29158289
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.
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R, Lazarou A, Hess ME, Reiser M, Wehrle J, Metzger P, Frey AV, Becker H, Aumann K, Berner K, Boeker M, Buettner N, Dierks C, Duque-Afonso J, Eisenblaetter M, Erbes T, Fritsch R, Ge IX, Geißler AL, Grabbert M, Heeg S, Heiland DH, Hettmer S, Kayser G, Keller A, Kleiber A, Kutilina A, Mehmed L, Meiss F, Poxleitner P, Rawluk J, Ruf J, Schäfer H, Scherer F, Shoumariyeh K, Tzschach A, Peters C, Brummer T, Werner M, Duyster J, Lassmann S, Miething C, Boerries M, Illert AL, von Bubnoff N. Hoefflin R, et al. Among authors: tzschach a. Cancers (Basel). 2021 Mar 8;13(5):1151. doi: 10.3390/cancers13051151. Cancers (Basel). 2021. PMID: 33800365 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.
Next-generation sequencing in X-linked intellectual disability.
Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P. Tzschach A, et al. Eur J Hum Genet. 2015 Nov;23(11):1513-8. doi: 10.1038/ejhg.2015.5. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649377 Free PMC article.
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N. Hackmann K, et al. Among authors: tzschach a. Am J Med Genet A. 2016 Jan;170A(1):94-102. doi: 10.1002/ajmg.a.37378. Epub 2015 Sep 11. Am J Med Genet A. 2016. PMID: 26358559
145 results