DSpace at RU >

Browsing by Author Janecke, A.R.

Full Text	Issue Date	Title	Author(s)
	2010	A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.	Jensen, L.R.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Numann, A., et al
	2010	Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome.	Glueckert, R.; Rask-Andersen, H.; Sergi, C.; Schmutzhard, J.; Mueller, B., et al
	2005	Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.	Thompson, D.A.; Janecke, A.R.; Lange, J. de; Feathers, K.L.; Hubner, C., et al
	2005	Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.	Jensen, L.R.; Amende, M.; Gurok, U.; Moser, B.; Gimmel, V., et al
	2005	GJB2 mutations and degree of hearing loss: a multicenter study.	Snoeckx, R.L.; Huygen, P.L.M.; Feldmann, D.; Marlin, S.; Denoyelle, F., et al