Institute of Human Genetics


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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

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Abstract

Journal

Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility (2018) Earp M, Tyrer JP, Winham SJ, Lin HY, Chornokur G, Dennis J, Aben KKH, et al. Journal article SWI/SNF protein expression status in fumarate hydratase-deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patients (2018) Agaimy A, Amin MB, Gill A, Popp B, Reis A, Berney DM, Magi-Galluzzi C, et al. Journal article Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data (2018) Wunderle M, Olmes G, Nabieva N, Häberle L, Jud S, Hein A, Rauh C, et al. Journal article Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability (2018) Scheller U, Pfisterer K, Uebe S, Ekici AB, Reis A, Jamra R, Ferrazzi F Journal article Characterization of germ cell differentiation in the male mouse through single-cell RNA sequencing (2018) Lukassen S, Bosch E, Ekici AB, Winterpacht A Journal article Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling (2018) Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, et al. Journal article Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations (2018) Wenzel A, Altmueller J, Ekici AB, Popp B, Stueber K, Thiele H, Pannes A, et al. Journal article Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons (2018) Jung M, Häberle B, Tschaikowsky T, Wittmann MT, Balta EA, Stadler VC, Zweier C, et al. Journal article Polyol pathway links glucose metabolism to the aggressiveness of cancer cells (2018) Schwab A, Siddiqui A, Vazakidou ME, Napoli F, Böttcher M, Menchicchi B, Raza U, et al. Journal article Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly (2017) Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, et al. Journal article