Dr. rer. nat. Arif Bülent Ekici

Institute of Human Genetics

Serum levels of miR-320 family members are associated with clinical parameters and diagnosis in prostate cancer patients (2018) Lieb V, Weigelt K, Scheinost L, Fischer K, Greither T, Marcou M, Theil G, 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 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 RNA-seq and pathway analysis of ocular tissues in PEX patients and healthy subjects (2018) Pasutto F, Zenkel M, Berner D, Uebe S, Ekici AB, Kruse F, Reis A, Schlötzer-Schrehardt U Conference contribution Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation (2018) Teumer A, Chaker L, Groeneweg S, Li Y, Di Munno C, Barbieri C, Schultheiss UT, et al. Journal article Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome (2018) Graul-Neumann LM, Mensah MA, Klopocki E, Uebe S, Ekici AB, Thiel C, Reis A, Zweier C Journal article Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature (2018) Hauer N, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, et al. Journal article