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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 5
2022
Brunet, Theresa; Berutti, Riccardo; Dill, Veronika; Hecker, Judith S.; Choukair, Daniela; Andres, Stephanie; Deschauer, Marcus; Diehl-Schmid, Janine; Krenn, Martin; Eckstein, Gertrud; Graf, Elisabeth; Gasser, Thomas; Strom, Tim M.; Hoefele, Julia; Goetze, Katharina S.; Meitinger, Thomas und Wagner, Matias
(2022):
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
In: Human Molecular Genetics, Bd. 31, Nr. 14: S. 2386-2395
[PDF, 544kB]
2021
Choukair, Daniela; Hauck, Fabian; Bettendorf, Markus; Krude, Heiko; Klein, Christoph; Baeumer, Tobias; Berner, Reinhard; Lee-Kirsch, Min Ae; Grasemann, Corinna; Burgard, Peter und Hoffmann, Georg F.
(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 Committee.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 474
Choukair, Daniela; Lee-Kirsch, Min Ae; Berner, Reinhard; Grasemann, Corinna; Hiort, Olaf; Hauck, Fabian; Klein, Christoph; Druschke, Diana; Hoffmann, Georg F. und Burgard, Peter
(2021):
Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der Pädiatrie – Ergebnisse aus dem Projekt TRANSLATE-NAMSE.
In: Monatsschrift Kinderheilkunde, Bd. 170, Nr. 1: S. 52-60
Li, Dong; Wang, Qin; Gong, Naihua N.; Kurolap, Alina; Feldman, Hagit Baris; Boy, Nikolas; Brugger, Melanie; Grand, Katheryn; McWalter, Kirsty; Sacoto, Maria J. Guillen; Wakeling, Emma; Hurst, Jane; March, Michael E.; Bhoj, Elizabeth J.; Nowaczyk, Malgorzata J. M.; Gonzaga-Jauregui, Claudia; Mathew, Mariam; Dava-Wala, Ashita; Siemon, Amy; Bartholomew, Dennis; Huang, Yue; Lee, Hane; Martinez-Agosto, Julian A.; Schwaibold, Eva M. C.; Brunet, Theresa; Choukair, Daniela; Pais, Lynn S.; White, Susan M.; Christodoulou, John; Brown, Dana; Lindstrom, Kristin; Grebe, Theresa; Tiosano, Dov; Kayser, Matthew S.; Tan, Tiong Yang; Deardorff, Matthew A.; Song, Yuanquan und Hakonarson, Hakon
(2021):
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
In: Science Advances, Bd. 7, Nr. 20, eabf2066
2013
Choukair, Daniela; Beuschlein, Felix; Zwermann, Oliver; Wudy, Stefan A.; Haufe, Sabine; Holland-Cunz, Stefan und Bettendorf, Markus
(2013):
Virilization of a Young Girl Caused by Concomitant Ectopic and Intra-Adrenal Adenomas of the Adrenal Cortex.
In: Hormone Research in Paediatrics, Nr. 5: S. 318-322
[PDF, 683kB]