Einträge von Hopkin, Robert J. auf dem Publikationsserver

Twigg, Stephen R. F. , Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J. , Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B. , Curry, Cynthia J., Jones, Marilyn C. und Wilkie, Andrew O. M. (2016) A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. The American Journal of Human Genetics 98 (6), S. 1256-1265. Volltext nicht vorhanden.

Weaver, K. Nicole, Watt, Kristin E. Noack, Hufnagel, Robert B. , Navajas Acedo, Joaquin, Linscott, Luke L. , Sund, Kristen L., Bender, Patricia L., König, Rainer, Lourenco, Charles M., Hehr, Ute, Hopkin, Robert J., Lohmann, Dietmar R. , Trainor, Paul A. , Wieczorek, Dagmar und Saal, Howard M. (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. The American Journal of Human Genetics 96 (5), S. 765-774. Volltext nicht vorhanden.