Guideline Adherence and Registry Recruitment of Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (HypoDok)

by Julia Thomann, Sascha R. Tittel, Egbert Voss, Rudolf Oeverink, Katja Palm, Susanne Fricke-Otto, Klaus Kapelari, Reinhard W. Holl, Joachim Woelfle, Markus Bettendorf
Published 2021-02-01

Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry

by Heike Hoyer-Kuhn, Angela Huebner, Anette Richter-Unruh, Markus Bettendorf, Tilman Rohrer, Klaus Kapelari, Stefan Riedl, Klaus Mohnike, Helmuth-Günther Dörr, Friedrich-Wilhelm Roehl, Katharina Fink, Reinhard W Holl, Joachim Woelfle
Published 2021-05-01

Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.

by Valerio Pazienza, Annamaria la Torre, Filomena Baorda, Michela Alfarano, Massimiliano Chetta, Lucia Anna Muscarella, Claudia Battista, Massimiliano Copetti, Dieter Kotzot, Klaus Kapelari, Dalia Al-Abdulrazzaq, Kusiel Perlman, Etienne Sochett, David E C Cole, Fabio Pellegrini, Lucie Canaff, Geoffrey N Hendy, Leonardo D'Agruma, Leopoldo Zelante, Massimo Carella, Alfredo Scillitani, Vito Guarnieri
Published 2013-01-01