A case of phace syndrome and acquired hypopituitarism?

por Denzer, Friederike, Denzer, Christian, Lennerz, Belinda S, Bode, Harald, Wabitsch, Martin
Publicado 2012

A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

por Hornig, Nadine C., de Beaufort, Carine, Denzer, Friederike, Cools, Martine, Wabitsch, Martin, Ukat, Martin, Kulle, Alexandra E., Schweikert, Hans-Udo, Werner, Ralf, Hiort, Olaf, Audi, Laura, Siebert, Reiner, Ammerpohl, Ole, Holterhus, Paul-Martin
Publicado 2016

Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene

por Wabitsch, Martin, Funcke, Jan-Bernd, von Schnurbein, Julia, Denzer, Friederike, Lahr, Georgia, Mazen, Inas, El-Gammal, Mona, Denzer, Christian, Moss, Anja, Debatin, Klaus-Michael, Gierschik, Peter, Mistry, Vanisha, Keogh, Julia M., Farooqi, I. Sadaf, Moepps, Barbara, Fischer-Posovszky, Pamela
Publicado 2015