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Unpublished / Preprint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

Genetic underpinnings of the psoriatic spectrum (2023) Hüffmeier U, Klima J, Hayatu MD Journal article Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons (2023) Asadollahi R, Delvendahl , Muff R, Tan G, Rodrieguez DG, Turan S, Russo M, et al. Journal article Nanomaterial-based ophthalmic therapies (2023) Unterweger H, Janko C, Civelek M, Cicha I, Spielvogel H, Tietze R, Friedrich B, Alexiou C Journal article Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development? (2023) Blum K, Krumbiegel M, Kraus C, Reis A, Hüffmeier U Journal article Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice (2023) Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, et al. Journal article The impact of coding germline variants on contralateral breast cancer risk and survival (2023) Morra A, Mavaddat N, Muranen TA, Ahearn TU, Allen J, Andrulis IL, Auvinen P, et al. Journal article Orally administered nanoparticles for gastrointestinal applications (2023) Tietze R, Unterweger H, Janko C, Civelek M, Cicha I, Spielvogel H, Alexiou C Journal article, Editorial CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome (2023) Akdas EY, Turan S, Guhathakurta D, Ekici AB, Salar S, Lie DC, Winner B, Fejtová A Journal article, Original article VEXAS syndrome mimicking lupus-like disease (2023) Valor-Mendez L, Sticherling M, Zeschick M, Atreya R, Schmidt D, Waldfahrer F, Saake M, et al. Journal article, Letter Impact of the Voltage-Gated Calcium Channel Antagonist Nimodipine on the Development of Oligodendrocyte Precursor Cells (2023) Enders M, Weier A, Chunder R, An Y, Bremm F, Feigenspan A, Büttner C, et al. Journal article