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Orphanet Journal of Rare Diseases|November 13, 2021
An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint CommitteeDaniela Choukair, Fabian Hauck, Markus Bettendorf, et al.
Deutsche Medizinische Wochenschrift (1946)|July 25, 2019
[Medical care of young women with Turner syndrome in Germany]Helmuth-Günther Dörr, Markus Bettendorf, Gerhard Binder, et al.
Deutsche Medizinische Wochenschrift (1946)|March 16, 2019
[Life Situation of Young women with Turner Syndrome: Results of a Questionnaire-based Study in Germany]Helmuth-Günther Dörr, Markus Bettendorf, Gerhard Binder, et al.
European Journal of Endocrinology|August 3, 2005
Machine learning approaches for phenotype-genotype mapping: predicting heterozygous mutations in the CYP21B gene from steroid profilesKlaus Prank, Egbert Schulze, Olaf Eckert, et al.
Human Reproduction (Oxford, England)|February 8, 2005
Uterine size in women with Turner syndrome after induction of puberty with estrogens and long-term growth hormone therapy: results of the German IGLU Follow-up Study 2001Helmuth G Doerr, Markus Bettendorf, Berthold P Hauffa, et al.
Hormone Research in Paediatrics|October 27, 2017
Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone DoseWalter Bonfig, Friedhelm Roehl, Stefan Riedl, et al.
Molecular and Cellular Pediatrics|July 11, 2020
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiencyHelmuth-Günther Dörr, Nadja Schulze, Markus Bettendorf, et al.
European Journal of Endocrinology|March 12, 2004
Central reassessment of GH concentrations measured at local treatment centers in children with impaired growth: consequences for patient managementBerthold P Hauffa, Nils Lehmann, Markus Bettendorf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiencyFranziska Simm, Anne Griesbeck, Daniela Choukair, et al.
Endocrine Connections|April 28, 2021
Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registryHeike Hoyer-Kuhn, Angela Huebner, Anette Richter-Unruh, et al.
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