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Brennenstuhl, Heiko [Author]; Schaaf, Christian P. [Author]Genomisches Neugeborenenscreening - Forschungsansätze, Herausforderungen und ChancenView onlineSchließen
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Published in: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz ; 66(2023), 11, Seite 1232-1242
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Brennenstuhl, Heiko [Author]; Will, Manuel [Author]; Ries, Elias [Author]; Mechler, Konstantin [Author]; Garbade, Sven [Author]; Ries, Markus [Author]Patterns of extreme temperature-related catastrophic events in Europe including the Russian Federation : a cross-sectional analysis of the Emergency Events DatabaseView onlineSchließen
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Published in: BMJ open ; 11(2021), 6, Artikel-ID e046359, Seite 1-8
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Brennenstuhl, Heiko [Author]; Will, Manuel [Author]; Ries, Elias [Author]; Mechler, Konstantin [Author]; Garbade, Sven [Author]; Ries, Markus [Author]Temperature-related disasters in Europe : a cross-sectional analysis of the emergency events database from a pediatric perspectiveView onlineSchließen
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Published in: medRxiv ; (2019), Artikel-ID 19012633, Seite 1-29
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Scharping, Mara [Author]; Brennenstuhl, Heiko [Author]; Garbade, Sven [Author]; Wild, Beate [Author]; Posset, Roland [Author]; Zielonka, Matthias [Author]; Kölker, Stefan [Author]; Haun, Markus W. [Author]; Opladen, Thomas [Author]Unmet needs of parents of children with Urea Cycle disordersView onlineClose
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Published in: Children ; 9(2022), 5, Artikel-ID 712, Seite 1-15
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Brennenstuhl, Heiko [Author]; Kohlmüller, Dirk [Author]; Gramer, Gwendolyn [Author]; Garbade, Sven [Author]; Syrbe, Steffen [Author]; Feyh, Patrik [Author]; Kölker, Stefan [Author]; Okun, Jürgen G. [Author]; Hoffmann, Georg F. [Author]; Opladen, Thomas [Author]High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spotsView onlineSchließen
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Published in: Journal of inherited metabolic disease ; 43(2020), 3, Seite 602-610
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Schröter, Julian [Author]; Popp, Bernt [Author]; Brennenstuhl, Heiko [Author]; Driedger, Jan Henje [Author]; Jestaedt, Leonie [Author]; Arélin, Maria [Author]; Gräfe, Daniel [Author]; Neuser, Sonja Anna [Author]; Parker, Michael [Author]; Lemke, Johannes [Author]; Hoffmann, Georg F. [Author]; Kölker, Stefan [Author]; Harting, Inga [Author]; Syrbe, Steffen [Author]Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsiesView onlineSchließen
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Published in: European journal of human genetics ; 30(2022), 3, Seite 298-306
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Semino, Francesca [Author]; Schröter, Julian [Author]; Willemsen, Marjolein H. [Author]; Bast, Thomas [Author]; Biskup, Saskia [Author]; Beck-Woedl, Stefanie [Author]; Brennenstuhl, Heiko [Author]; Schaaf, Christian P. [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Haack, Tobias B. [Author]; Syrbe, Steffen [Author]Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorderView onlineSchließen
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Published in: Human mutation ; 42(2021), 9, Seite 1094-1100
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Opladen, Thomas [Author]; Brennenstuhl, Heiko [Author]; Kuseyri Hübschmann, Oya [Author]; Call, Debora [Author]; Green, Kim [Author]; Schara, Ulrike [Author]; Rascher, Wolfgang [Author]; Hövel, Annegret [Author]; Assmann, Birgit [Author]; Kölker, Stefan [Author]; Westhoff, Jens [Author]; Walter, Magdalena [Author]; Ziegler, Andreas [Author]; Hoffmann, Georg F. [Author]; Kiening, Karl [Author]Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovecView onlineSchließen
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Published in: Monatsschrift Kinderheilkunde ; 169(2021), 8, Seite 738-747
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Brennenstuhl, Heiko [Author]; Nashawi, Mohammed [Author]; Schröter, Julian [Author]; Baronio, Federico [Author]; Beedgen, Lars [Author]; Gleich, Florian [Author]; Jeltsch, Kathrin [Author]; Landenberg, Christina von [Author]; Martini, Silvia [Author]; Simon, Anna [Author]; Thiel, Christian [Author]; Tsiakas, Konstantinos [Author]; Opladen, Thomas [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Haas, Dorothea [Author]Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduriaView onlineSchließen
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Published in: Journal of inherited metabolic disease ; 44(2021), 5, Seite 1272-1287
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Driedger, Jan Henje [Author]; Schröter, Julian [Author]; Jüngling, Jerome [Author]; Biskup, Saskia [Author]; Klotz, Kerstin A. [Author]; Bast, Thomas [Author]; Dietel, Tobias [Author]; Korenke, Christoph [Author]; Christoph, Sophie [Author]; Brennenstuhl, Heiko [Author]; Rubboli, Guido [Author]; Møller, Rikke S. [Author]; Lesca, Gaetan [Author]; Chaix, Yves [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Lemke, Johannes [Author]; Syrbe, Steffen [Author]Refining genotypes and phenotypes in KCNA2-related neurological disordersView onlineSchließen
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Published in: International journal of molecular sciences ; 22(2021), 6, Artikel-ID 2824, Seite 1-16
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Döring, Jan H. [Author]; Schröter, Julian [Author]; Jüngling, Jerome [Author]; Biskup, Saskia [Author]; Klotz, Kerstin A. [Author]; Bast, Thomas [Author]; Dietel, Tobias [Author]; Korenke, G. Christoph [Author]; Christoph, Sophie [Author]; Brennenstuhl, Heiko [Author]; Rubboli, Guido [Author]; Moller, Rikke S. [Author]; Lesca, Gaetan [Author]; Chaix, Yves [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Lemke, Johannes R. [Author]; Syrbe, Steffen [Author]Refining Genotypes and Phenotypes in KCNA2-Related Neurological DisordersView onlineClose
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Published in: International Journal of Molecular Sciences ; 22, (2021)
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Driedger, Jan Henje [Author]; Schröter, Julian [Author]; Jüngling, Jerome [Author]; Biskup, Saskia [Author]; Klotz, Kerstin A. [Author]; Bast, Thomas [Author]; Dietel, Tobias [Author]; Korenke, Christoph [Author]; Christoph, Maria-Sophie [Author]; Brennenstuhl, Heiko [Author]; Rubboli, Guido [Author]; Møller, Rikke S. [Author]; Lesca, Gaetan [Author]; Chaix, Yves [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Lemke, Johannes [Author]; Syrbe, Steffen [Author]Refining genotypes and phenotypes in KCNA2-related neurological disordersView onlineClose
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Published in: International journal of molecular sciences ; 22, 6 (2021), 2824
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Vogel, Georg [Author]; Mozer-Glassberg, Yael [Author]; Landau, Yuval E. [Author]; Schlieben, Lea D. [Author]; Prokisch, Holger [Author]; Feichtinger, René G. [Author]; Mayr, Johannes A. [Author]; Brennenstuhl, Heiko [Author]; Schröter, Julian [Author]; Pechlaner, Agnes [Author]; Alkuraya, Fowzan S. [Author]; Baker, Joshua J. [Author]; Barcia, Giulia [Author]; Baric, Ivo [Author]; Braverman, Nancy [Author]; Burnyte, Birute [Author]; Christodoulou, John [Author]; Ciara, Elzbieta [Author]; Coman, David [Author]; Das, Anibh M. [Author]; Darin, Niklas [Author]; Della Marina, Adela [Author]; Distelmaier, Felix [Author]; Eklund, Erik A. [Author]; [...]Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsView onlineSchließen
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Published in: Genetics in medicine ; 25(2023), 6 vom: Juni, Artikel-ID 100314, Seite 1-16
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Keller, Mareike [Author]; Brennenstuhl, Heiko [Author]; Kuseyri Hübschmann, Oya [Author]; Manti, Filippo [Author]; Julia Palacios, Natalia Alexandra [Author]; Friedman, Jennifer R. [Author]; Yıldız, Yılmaz [Author]; Koht, Jeanette Aimee [Author]; Wong, Suet-Na [Author]; Zafeiriou, Dimitrios I. [Author]; López-Laso, Eduardo [Author]; Pons, Roser [Author]; Kulhánek, Jan [Author]; Jeltsch, Kathrin [Author]; Serrano-Lomelin, Jesus [Author]; Garbade, Sven [Author]; Opladen, Thomas [Author]; Goez, Helly [Author]; Burlina, Alberto [Author]; Cortès-Saladelafont, Elisenda [Author]; Fernández Ramos, Joaquín Alejandro [Author]; García-Cazorla, Angeles [Author]; Hoffmann, Georg F. [Author]; Kiat Hong, Stacey Tay [Author]; [...]Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registryView onlineSchließen
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Published in: Journal of inherited metabolic disease ; 44(2021), 6 vom: Nov., Seite 1489-1502
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Brennenstuhl, Heiko; Schaaf, Christian P.Genomisches Neugeborenenscreening – Forschungsansätze, Herausforderungen und Chancen Genomic newborn screening—research approaches, challenges, and opportunitiesView onlineSchließen
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Published in: Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz
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Brennenstuhl, Heiko; Christ, Stine; Kock, VanessaThe “Young Metabolic Society”: An interest group for young professionals in the field of metabolic medicineView onlineSchließen
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Published in: Journal of Inherited Metabolic Disease
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Maaß, Johann Georg; Brennenstuhl, Heiko; Schaaf, Christian PatrickMorbidity and mortality in Schaaf-Yang syndromeView onlineSchließen
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Published in: Annals of Translational Medicine
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Brennenstuhl, Heiko; Jung-Klawitter, Sabine; Assmann, Birgit; Opladen, ThomasInherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and TreatmentView onlineSchließen
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Published in: Neuropediatrics
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Wimmer, Moritz Claudius; Brennenstuhl, Heiko; Hirsch, Steffen; Dötsch, Laura; Unser, Samy; Caro, Pilar; Schaaf, Christian PatrickHao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrumView onlineSchließen
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Published in: Clinical Genetics
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Brennenstuhl, Heiko; Will, Manuel; Ries, Elias; Mechler, Konstantin; Garbade, Sven; Ries, MarkusPatterns of extreme temperature-related catastrophic events in Europe including the Russian Federation: a cross-sectional analysis of the Emergency Events DatabaseView onlineSchließen
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Published in: BMJ Open