PMC Links for Nucleotide (Select 1700447992) - PMC

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Items: 2

Select item 42599721.

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

Nadja Ehmke, Almuth Caliebe, Rainer Koenig, Sarina G. Kant, Zornitza Stark, Valérie Cormier-Daire, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Kirstin Hoff, Amit Kawalia, Holger Thiele, Janine Altmüller, Björn Fischer-Zirnsak, Alexej Knaus, Na Zhu, Verena Heinrich, Celine Huber, Izabela Harabula, Malte Spielmann, Denise Horn, Uwe Kornak, Jochen Hecht, Peter M. Krawitz, Peter Nürnberg, Reiner Siebert, Hermann Manzke, Stefan Mundlos

Am J Hum Genet. 2014 Dec 4; 95(6): 763–770. doi: 10.1016/j.ajhg.2014.11.004

PMCID:: PMC4259972

Abstract Article PDF–1004K

Select item 28967442.

The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative

Bengt Persson, James E. Bray, Elspeth Bruford, Stephen L. Dellaporta, Angelo D. Favia, Roser Gonzalez Duarte, Hans Jörnvall, Yvonne Kallberg, Kathryn L. Kavanagh, Natalia Kedishvili, Michael Kisiela, Edmund Maser, Rebekka Mindnich, Sandra Orchard, Trevor M. Penning, Janet M. Thornton, Jerzy Adamski, Udo Oppermann

Chem Biol Interact. Author manuscript; available in PMC 2010 Jul 5.

Published in final edited form as: Chem Biol Interact. 2009 Mar 16; 178(1-3): 94–98. Published online 2008 Nov 5. doi: 10.1016/j.cbi.2008.10.040