Lehrstuhl für Humangenetik

rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology (2018) Kelemen LE, Earp M, Fridley BL, Chenevix-Trench G, Fasching P, Beckmann M, Ekici AB, et al. Journal article Inhibiting Interleukin 36 Receptor Signaling Reduces Fibrosis in Mice with Chronic Intestinal Inflammation (2018) Scheibe K, Kersten C, Schmied A, Vieth M, Primbs T, Carlé BE, Knieling F, et al. Journal article A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings (2018) Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel C, et al. Journal article The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25 (2018) Leal A, Bogantes-Ledezma S, Ekici AB, Uebe S, Thiel C, Sticht H, Berghoff M, et al. Journal article Single-cell RNA sequencing of adult mouse testes (2018) Lukassen S, Bosch E, Ekici AB, Winterpacht A Journal article FoxO Function Is Essential for Maintenance of Autophagic Flux and Neuronal Morphogenesis in Adult Neurogenesis (2018) Schäffner I, Minakaki G, Khan MA, Balta EA, Schlötzer-Schrehardt U, Schwarz TJ, Beckervordersandforth R, et al. Journal article Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu (2018) Kraus C, Uebe S, Thiel C, Ekici AB, Reis A, Zweier C Journal article Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium (2018) Popp B, Krumbiegel M, Grosch J, Sommer A, Uebe S, Kohl Z, Ploetz S, et al. Journal article Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy (2018) Pasutto F, Ekici AB, Reis A, Kremers J, Huchzermeyer C Journal article CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2018) Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al. Journal article