Ralf Werner

Homozygous Disruption of P450 Side-Chain Cleavage (CYP11A1) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure

Olaf Hiort, Paul‐Martin Holterhus, Ralf Werner et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 122 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Identification of an <i>AR</i> Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

Nadine Hornig, Martin Ukat, H. U. Schweikert et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 87 citations · Full text

Medicine, Endocrinology, Genetics +17

Broadening of cohesinopathies: exome sequencing identifies mutations in <i><scp>ANKRD11</scp></i> in two patients with Cornelia de Lange‐overlapping phenotype

Ilaria Parenti, Cristina Gervasini, Jelena Pozojevic et al. · Clinical Genetics · 2015 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction

Susanne Thiele, Luisa De Sanctis, Ralf Werner et al. · Human Mutation · 2011 · 78 citations · Full text

Life Sciences, Endocrinology, Genetics +9

46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (<i>DHH</i>) Identified by Exome Sequencing

Ralf Werner, Hartmut Merz, Wiebke Birnbaum et al. · The Journal of Clinical Endocrinology & Metabolism · 2015 · 73 citations · Full text

Medicine, Genetics, Molecular Genetics +17