Full Text Journal Articles by
Author Daniela Choukair

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The Interdisciplinary Diagnosis of Rare Diseases-Results of the Translate-NAMSE Project.

Franziska Rillig, Annette Grüters, Tobias Bäumer, Georg F Hoffmann, Daniela Choukair, Reinhard Berner, Min Ae Lee-Kirsch, Martin Mücke, Corinna Grasemann, Annekatrin Ripke, Lena Zeltner, Gabriele Müller, Monika Glauch, Holm Graessner, Fabian Hauck, Christoph Klein, Markus M Nöthen, Olaf Riess, Stefan Mundlos, Thomas Meitinger, Tobias Kurt, Kerstin L Wainwright, Jochen Schmitt, Christoph Schramm, Heiko Krude,

<h4>Background</h4>Patients with rare diseases often undergo a diagnostic odyssey that can last many years until the diagnosis is definitively established. To improve the diagnosis and treatment of these patients, the German National Task Force for Patients With Rare Diseases (Nationales Aktionsbündnis für Menschen mit Seltenen Erkrankungen, NAMSE) has recommended the ... Read more >>

Dtsch Arztebl Int (Deutsches Arzteblatt international)
[2022, (Forthcoming):arztebl.m2022.0219]

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Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risks§.

Peter H Vogt, Banu Besikoglu, Markus Bettendorf, Petra Frank-Herrmann, Jutta Zimmer, Urike Bender, Sabine Knauer-Fischer, Daniela Choukair, Peter Sinn, Helmuth-Guenther Doerr, Joachim Woelfle, Peter H Heidemann, Yun-Fai Chris Lau, Thomas Strowitzki,

"<i>Differences of Sexual Development (DSD</i>)," individuals with rearranged Y chromosome breaks in their 46,XY cells are reported with male and female gender phenotypes and differences in germ cell tumour (GCT) risk. This raised the question of whether male or female gender and GCT risk depends on the site of the ... Read more >>

Syst Biol Reprod Med (Systems biology in reproductive medicine)
[2022, 68(4):247-257]

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