Disorders of Sex Development and Hypogonadism: Genetics, Mechanism, and Therapies

بواسطة Gil Guerra-Junior, Ana Claudia Latronico, Olaf Hiort, Rodolfo Rey
منشور في 2012-01-01

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

بواسطة Ralf Werner, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, Christoph Thorns, Benedikt Reiz, Alexandra Krause, Karl Otfried Schwab, Gerhard Binder, Paul-Martin Holterhus, Olaf Hiort
منشور في 2017-01-01

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

بواسطة Nadine C Hornig, Carine de Beaufort, Friederike Denzer, Martine Cools, Martin Wabitsch, Martin Ukat, Alexandra E Kulle, Hans-Udo Schweikert, Ralf Werner, Olaf Hiort, Laura Audi, Reiner Siebert, Ole Ammerpohl, Paul-Martin Holterhus
منشور في 2016-01-01