Výsledky vyhledávání - Helmuth‐Günther Dörr
- Zobrazuji výsledky 1 - 7 z 7
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Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life Autor Brigitte Odenwald, U Nennstiel‐Ratzel, Helmuth‐Günther Dörr, Heinrich Schmidt, Manfred Wildner, Walter Bonfig
Vydáno 2015Artigo -
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Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patien... Autor Stefan Riedl, Friedrich‐Wilhelm Röhl, Walter Bonfig, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke‐Otto, Markus Bettendorf, Felix G. Riepe, Gernot Kriegshäuser, Eckhard Schönaü, Gertrud Even, Berthold P. Hauffa, Helmuth‐Günther Dörr, Reinhard W. Holl, Klaus Mohnike, _ _
Vydáno 2019Artigo -
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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature Autor Nadine Hauer, Heinrich Sticht, Sangamitra Boppudi, Christian Büttner, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Dagmar Wieczorek, Jaqueline Kelkel, Anna‐Maria Jung, Steffen Uebe, Arif B. Ekici, Tilman Rohrer, André Reis, Helmuth‐Günther Dörr, Christian T. Thiel
Vydáno 2017Artigo -
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Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort Autor Mohamad Maghnie, Michael B. Ranke, Mitchell E. Geffner, Elpis Vlachopapadopoulou, Lourdes Ibáñez, Martin Carlsson, Wayne S. Cutfield, Raoul Rooman, Roy Gomez, Michael P. Wajnrajch, Agnès Linglart, Renata Stawerska, Peter Clayton, Feyza Darendelıler, Anita Hokken-Koelega, Reiko Horikawa, Toshiaki Tanaka, Helmuth‐Günther Dörr, Kerstin Albertsson‐Wikland, Michel Polak, Adda Grimberg
Vydáno 2022Artigo -
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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature Autor Nadine Hauer, Bernt Popp, Schoeller Eva, Sarah Schuhmann, Karen E. Heath, Alfonso Hisado-Oliva, Patricia Klinger, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Erdmute Kunstmann, Dagmar Wieczorek, Steffen Uebe, Fulvia Ferrazzi, Christian Büttner, Arif B. Ekici, Anita Rauch, Heinrich Sticht, Helmuth‐Günther Dörr, André Reis, Christian T. Thiel
Vydáno 2017Artigo
Vyhledávací nástroje:
Související témata
Medicine
Internal medicine
Pediatrics
Biology
Endocrinology
Gene
Genetics
Short stature
Bioinformatics
Congenital adrenal hyperplasia
Genotype
Growth hormone
Hormone
Hydrocortisone
Idiopathic short stature
Mutation
Phenotype
Psychiatry
Adrenal cortex
Adrenal crisis
Adrenal insufficiency
Adverse effect
Allosteric regulation
Calcimimetic
Calcium
Calcium metabolism
Calcium-sensing receptor
Cinacalcet
Circadian rhythm
Cohort