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Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism.

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Title: Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism.
Authors: Begemann M; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de., Boy JAT; Department of Pediatrics, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de., Kraft F; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de., Vossschulte H; Pediatric Surgery and Urology, Children's and Youth Hospital Auf der Bult, Hannover, Germany., Barthlen W; Department of Pediatric Surgery, Protestant Hospital of Bethel Foundation, University Hospital OWL, Campus Bielefeld Bethel, University of Bielefeld, Bielefeld, Germany, uni-bielefeld.de., Kummer S; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany, uni-duesseldorf.de., Orlikowsky T; Department of Pediatrics, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de., Torosoglu A; St. Josef-Stift Hospital Sendenhorst, Sendenhorst, Germany., Eggermann T; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de., Kurth I; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de., Elbracht M; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de., Pappa A; Department of Pediatrics, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.
Source: Genetics research [Genet Res (Camb)] 2025 Dec 12; Vol. 2025, pp. 7281653. Date of Electronic Publication: 2025 Dec 12 (Print Publication: 2025).
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: John Wiley & Sons, Ltd Country of Publication: England NLM ID: 101550220 Publication Model: eCollection Cited Medium: Internet ISSN: 1469-5073 (Electronic) Linking ISSN: 00166723 NLM ISO Abbreviation: Genet Res (Camb) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism.
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  Data: <searchLink fieldCode="AU" term="%22Begemann+M%22">Begemann M</searchLink>; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.<br /><searchLink fieldCode="AU" term="%22Boy+JAT%22">Boy JAT</searchLink>; Department of Pediatrics, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.<br /><searchLink fieldCode="AU" term="%22Kraft+F%22">Kraft F</searchLink>; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.<br /><searchLink fieldCode="AU" term="%22Vossschulte+H%22">Vossschulte H</searchLink>; Pediatric Surgery and Urology, Children's and Youth Hospital Auf der Bult, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Barthlen+W%22">Barthlen W</searchLink>; Department of Pediatric Surgery, Protestant Hospital of Bethel Foundation, University Hospital OWL, Campus Bielefeld Bethel, University of Bielefeld, Bielefeld, Germany, uni-bielefeld.de.<br /><searchLink fieldCode="AU" term="%22Kummer+S%22">Kummer S</searchLink>; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany, uni-duesseldorf.de.<br /><searchLink fieldCode="AU" term="%22Orlikowsky+T%22">Orlikowsky T</searchLink>; Department of Pediatrics, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.<br /><searchLink fieldCode="AU" term="%22Torosoglu+A%22">Torosoglu A</searchLink>; St. Josef-Stift Hospital Sendenhorst, Sendenhorst, Germany.<br /><searchLink fieldCode="AU" term="%22Eggermann+T%22">Eggermann T</searchLink>; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.<br /><searchLink fieldCode="AU" term="%22Kurth+I%22">Kurth I</searchLink>; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.<br /><searchLink fieldCode="AU" term="%22Elbracht+M%22">Elbracht M</searchLink>; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.<br /><searchLink fieldCode="AU" term="%22Pappa+A%22">Pappa A</searchLink>; Department of Pediatrics, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.
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