EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

por Baumgartner-Parzer, Sabina, Witsch-Baumgartner, Martina, Hoeppner, Wolfgang
Publicado 2020

Reply to Lao Q and Merke DP

por Baumgartner-Parzer, Sabina, Witsch-Baumgartner, Martina, Hoeppner, Wolfgang
Publicado 2021

Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting

por Thiele, Susanne, Werner, Ralf, Stubbe, Annika, Hiort, Olaf, Hoeppner, Wolfgang
Publicado 2020

The Association of Genetic Markers for Type 2 Diabetes with Prediabetic Status - Cross-Sectional Data of a Diabetes Prevention Trial

por Zyriax, Birgit-Christiane, Salazar, Ramona, Hoeppner, Wolfgang, Vettorazzi, Eik, Herder, Christian, Windler, Eberhard
Publicado 2013

A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita

por Gerards, Judith, Ritter, Michael M, Kaminsky, Elke, Gal, Andreas, Hoeppner, Wolfgang, Quinkler, Marcus
Publicado 2017