Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Mona Kreutzer"'
Autor:
Min Ae Lee-Kirsch, Nadja Lucas, Mona Kreutzer, Sebahattin Cirak, Anne Koy, Friederike Koerber, Daniel Bamborschke, Christoph Huenseler, Peter Herkenrath
Publikováno v:
Brain and Development. 43:320-324
Background Aicardi-Goutieres syndrome (AGS) is a clinically and genetically heterogenous autoinflammatory disorder caused by constitutive activation of the type I interferon axis. It has been associated with the genes TREX1, RNASEH2A, RNASEH2B, RNASE
Autor:
Peter Nürnberg, Katharina Schoner, Haluk Topaloglu, Goknur Haliloglu, Janine Altmüller, Mert Karakaya, Harald Ehrhardt, Hülya-Sevcan Daimagüler, Susanne Motameny, Sebahattin Cirak, Anne Koy, Eva Maria Christina Schwaibold, Mona Kreutzer, Kerstin Becker, Cho-Ming Chao, Marion Imbert-Bouteille, Haicui Wang, Matthias Pergande, Amit Kawalia, Jens H. Westhoff, Jens Reimann, Slavica Ostojic, Harald von Pein, Nursel Elcioglu, Özkan Özdemir, Mireille Cossée, Andreas Hahn, Özgür Duman, Holger Thiele, Raoul Heller, Anne Schänzer
Publikováno v:
Genetics in Medicine. 22:1426-1428
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Autor:
Jörg Dötsch, Peter Nürnberg, Daniel Bamborschke, Sebahattin Cirak, Angela Kribs, Mona Kreutzer, Janine Altmüller, Susanne Motameny, Özkan Özdemir, Holger Thiele
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(1)
Genetic diseases are a major cause of neonatal morbidity and mortality. The clinical differential diagnosis in severely ill neonates, especially in premature infants, is challenging. Next generation sequencing (NGS) diagnostics is a valuable tool, bu
Autor:
Eva Maria Christina Schwaibold, Katharina Schoner, Harald von Pein, Haluk Topaloglu, Harald Ehrhardt, Goknur Haliloglu, Raoul Heller, Haicui Wang, Mona Kreutzer, Mireille Cossée, Andreas Hahn, Slavica Ostojic, Anne Schänzer, Cho-Ming Chao, Mert Karakaya, Özgür Duman, Janine Altmüller, Nursel Elcioglu, Susanne Motameny, Hülya-Sevcan Daimagüler, Holger Thiele, Anne Koy, Özkan Özdemir, Sebahattin Cirak, Marion Imbert-Bouteille, Kerstin Becker, Amit Kawalia, Jens Reimann, Peter Nürnberg, Matthias Pergande, Jens H. Westhoff
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.511-523. ⟨10.1038/s41436-019-0680-1⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.511-523. ⟨10.1038/s41436-019-0680-1⟩
International audience; Fetal akinesia has multiple clinical subtypes with over 160 gene associations, but the genetic etiology is not yet completely understood.Methods: In this study, 51 patients from 47 unrelated families were analyzed using next-g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b66fd42acdd9a9ae00d13a2ec529b45b
https://hal.umontpellier.fr/hal-03376439
https://hal.umontpellier.fr/hal-03376439