Quality of life of children with achondroplasia and their parents - a German cross-sectional study

by Stefanie Witt, Beate Kolb, Janika Bloemeke, Klaus Mohnike, Monika Bullinger, Julia Quitmann
Published 2019-08-01

How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system

by Alexandra Berger, Anne-Kathrin Rustemeier, Jens Göbel, Dennis Kadioglu, Vanessa Britz, Katharina Schubert, Klaus Mohnike, Holger Storf, Thomas O. F. Wagner
Published 2021-05-01

Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism

by Alena Welters, Thomas Meissner, Jürgen Grulich-Henn, Elke Fröhlich-Reiterer, Katharina Warncke, Klaus Mohnike, Oliver Blankenstein, Ulrike Menzel, Nicolin Datz, Esther Bollow, Reinhard W. Holl
Published 2018-12-01

Establishing the first pan-European Registry for rare bone and mineral disorders: EuRR-Bone

by Corinna Grasemann, Marina Mordenti, Inês Alves, Rebecca Skarberg, Ondrej Soucek, Marco Roos, M. Kassim Javaid, S. Faisal Ahmed, Agnès Lignart, Klaus Mohnike, Wolfgang Högler, Luca Sangiorgi, Natasha M. Appelman-Dijkstra
Published 2020-10-01

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

The first European consensus on principles of management for achondroplasia

by Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Sérgio Bernardo de Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike
Published 2021-07-01

Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patien...

by Stefan Riedl, Friedrich-Wilhelm Röhl, Walter Bonfig, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Markus Bettendorf, Felix Riepe, Gernot Kriegshäuser, Eckhard Schönau, Gertrud Even, Berthold Hauffa, Helmuth-Günther Dörr, Reinhard W Holl, Klaus Mohnike
Published 2019-01-01

Quality of Life of Short-Statured Children Born Small for Gestational Age or Idiopathic Growth Hormone Deficiency Within 1 Year of Growth Hormone Treatment

by Julia Quitmann, Janika Bloemeke, Neuza Silva, Neuza Silva, Monika Bullinger, Stefanie Witt, Ilker Akkurt, Desiree Dunstheimer, Christian Vogel, Volker Böttcher, Ursula Kuhnle Krahl, Markus Bettendorf, Eckhard Schönau, Susanne Fricke-Otto, Alexandra Keller, Klaus Mohnike, Helmuth-Günther Dörr
Published 2019-04-01

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome [version 2; peer review: 2 approved, 1 approved with reservations]

by Indraneel Banerjee, Senthil Senniappan, Thomas W. Laver, Richard Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N. Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Pratik Shah, Zeynep Siklar, Charles F. Verge, Michael N. Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan
Published 2020-08-01

The European Registry for Rare Bone and Mineral Conditions (EuRR-Bone): First year experience of the use of an e-reporting tool

by Ana Luisa Priego Zurita, Agnès Linglart, Inês Alves, Renata Simona Auriemma, Manila Boarini, Jillian Bryce, Luisa DeSanctis, Diana-Alexandra Ertl, Hoong-Wei Gan, Corinna Grasemann, Wolfgang Högler, M. Kassim Javaid, Klaus Mohnike, Marina Mordenti, Adalbert Raimann, Luca Sangiorgi, Marco Roos, Rebecca Skarberg, Ondrej Soucek, Judit Toke, Erica van den Akker, Almudena Vicente, Ahmed S. Faisal, Natasha Appelman-Dijkstra
Published 2021-04-01