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Unpublished / Preprint

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Abstract

Journal

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome (2015) Kuechler A, Zink AM, Wieland T, Luedecke HJ, Cremer K, Salviati L, Magini P, et al. Journal article MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects (2015) Hoffjan S, Epplen JT, Reis A, Abou Jamra R Journal article Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection (2015) Omilusik KD, Best JA, Yu B, Goossens S, Weidemann A, Nguyen JV, Seuntjens E, et al. Journal article Adult neurogenesis in neurodegenerative diseases (2015) Winner B, Winkler J Journal article Gene network analysis: from heart development to cardiac therapy (2015) Ferrazzi F, Bellazzi R, Engel F Journal article Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients (2015) Moessner R, Frambach Y, Wilsmann-Theis D, Loehr S, Jacobi A, Weyergraf A, Mueller M, et al. Journal article De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females (2015) Popp B, Stove SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, et al. Journal article Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization (2015) Zhang B, Shu XO, Delahanty RJ, Zeng C, Michailidou K, Bolla MK, Wang Q, et al. Journal article Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer (2015) Lawrenson K, Iversen ES, Tyrer J, Weber RP, Concannon P, Hazelett DJ, Li Q, et al. Journal article Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus (2015) Hauser MA, Aboobakar IF, Liu Y, Miura S, Whigham BT, Challa P, Wheeler J, et al. Journal article