Einträge von Bale, Sherri auf dem Publikationsserver

de Lima, Renata L. L. Ferreira, Hoper, Sarah A., Ghassibe, Michella, Cooper, Margaret E., Rorick, Nicholas K., Kondo, Shinji, Katz, Lori, Marazita, Mary L., Compton, John, Bale, Sherri, Hehr, Ute, Dixon, Michael J., Daack-Hirsch, Sandra , Boute, Odile, Bayet, Bénédicte, Revencu, Nicole, Verellen-Dumoulin, Christine, Vikkula, Miikka , Richieri-Costa, Antônio, Moretti-Ferreira, Danilo , Murray, Jeffrey C. und Schutte, Brian C. (2009) Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genetics in Medicine 11 (4), S. 241-247. Volltext nicht vorhanden.

Roessler, Erich, El-Jaick, Kenia B. , Dubourg, Christèle, Vélez, Jorge I. , Solomon, Benjamin D., Pineda-Álvarez, Daniel E., Lacbawan, Felicitas, Zhou, Nan, Ouspenskaia, Maia, Paulussen, Aimée, Smeets, Hubert J., Hehr, Ute, Bendavid, Claude, Bale, Sherri, Odent, Sylvie, David, Véronique und Muenke, Maximilian (2009) The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. Human Mutation 30 (10), E921-E935. Volltext nicht vorhanden.