Human Molecular Genetics

Journal Abbreviation: HUM MOL GENET
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: Oxford University Press (OUP): Policy B - Oxford Open Option B

Publications (50)

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Unpublished / Preprint

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Abstract

Ccdc66 null mutation causes retinal degeneration and dysfunction (2011) Gerding WM, Schreiber S, Schulte-Middelmann T, Marques ADC, Atorf J, Akkad DA, Dekomien G, et al. Journal article Lack of Wdr36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro. (2011) Wegner M Journal article, Original article SOX9 controls epithelial branching by activating RET effector genes during kidney development. (2011) Sock E, Wegner M Journal article, Original 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 SOX10 structure function analysis in the chicken reveals important insights into its role in human neurocristopathies. (2010) Müller J, Wegner M Journal article, Original article Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. (2007) Wegner M Journal article, Original article Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia (2003) Sock E, Wegner M Journal article, Original article Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome (2000) Sock E, Wegner M Journal article, Original article A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: Sox10 dysfunction causes different neurocristopathies (1999) Wegner M Journal article, Original article