Lehrstuhl für Humangenetik


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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Unpublished / Preprint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

Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta (2012) Tagariello A, Breuer C, Birkner Y, Schmidt S, Koch AM, Cesnjevar R, Rueffer A, et al. Journal article Common genetic determinants of intraocular pressure and primary open-angle glaucoma (2012) Van Koolwijk LME, Ramdas WD, Ikram MK, Jansonius NM, Pasutto F, Hysi PG, MacGregor S, et al. Journal article Adult neurogenesis and neurite outgrowth are impaired in LRRK2 G2019S mice (2011) Winner B, Gage FH, Winkler J Journal article In vivo demonstration that alpha-synuclein oligomers are toxic. (2011) Winner B, Jappelli R, Maji SK, Desplats PA, Boyer L, Aigner S, Hetzer C, et al. Journal article Regulation of Lysyl Oxidase-like 1 (LOXL1) and Elastin-Related Genes by Pathogenic Factors Associated with Pseudoexfoliation Syndrome (2011) Zenkel M, Krysta A, Pasutto F, Jünemann A, Kruse F, Schlötzer-Schrehardt U Journal article Phenotypic variability in a large Czech family with a Dynamin 2-associated Charcot-Marie-Tooth neuropathy (2011) Haberlova J, Mazanec R, Ridzon P, Barankova L, Nuernberg G, Nuernberg P, Sticht H, et al. Journal article Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome (2011) Krumbiegel M, Pasutto F, Schlötzer-Schrehardt U, Uebe S, Zenkel M, Mardin C, Weisschuh N, et al. Journal article Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma (2011) Fernández Martinez L, Letteboer S, Mardin C, Weisschuh N, Gramer E, Weber BHF, Rautenstrauß B, et al. Journal article Common genetic variants associated with open-angle glaucoma (2011) Ramdas WD, Van Koolwijk LME, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, Janssen SF, et al. Journal article Pluripotent stem cells in neurodegenerative and neurodevelopmental diseases. (2010) Winner B, Marchetto MCN, Gage FH Journal article, Review article