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aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
Julian Schröter, Tal Dattner, Jennifer Hüllein, Alejandra Jayme, Vincent Heuveline,Georg F Hoffmann, Stefan Kölker, Dominic Lenz, Thomas Opladen, Bernt Popp, Christian P Schaaf, Christian Staufner,
Comput Struct Biotechnol J（2023）
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A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry
Rafael Tesorero,Joachim Janda, Friederike Hörster, Patrik Feyh, Ulrike Mütze,Jana Hauke, Kathrin Schwarz, Joachim B Kunz,Georg F Hoffmann, Jürgen G Okun
PloS oneno. 3 (2023)
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Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening
Péter Monostori, Markus Godejohann, Joachim Janda,Zsolt Galla, Gábor Rácz, Glynis Klinke, Ildikó Szatmári, Petra Zsidegh, Dirk Kohlmüller, Stefan Kölker,Georg F Hoffmann, Gwendolyn Gramer,
Clinical Biochemistry（2023）
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Evaluation of Right Ventricular Function in Patients with Propionic Acidemia-A Cross-Sectional Study
Alexander Kovacevic, Sven F Garbade, Friederike Hörster,Georg F Hoffmann, Matthias Gorenflo,Derliz Mereles, Stefan Kölker, Christian Staufner
Children (Basel)（2023）
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Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Oya Kuseyri Hübschmann, Natalia Alexandra Juliá-Palacios, Mireia Olivella, Philipp Guder, Dimitrios I Zafeiriou, Gabriella Horvath,Jan Kulhánek,Toni S Pearson, Alice Kuster,Elisenda Cortès-Saladelafont, Salvador Ibáñez, Maria Concepción García-Jiménez,
ANNALS OF NEUROLOGY（2022）
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2
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Long COVID symptoms in exposed and infected children, adolescents and their parents one year after SARS-CoV-2 infection: A prospective observational cohort study
Anneke Haddad, Aleš Janda,Hanna Renk, Maximilian Stich, Pauline Frieh, Klaus Kaier, Florens Lohrmann, Alexandra Nieters, Anna Willems, Daniela Huzly,Alex Dulovic,Nicole Schneiderhan-Marra,
eBioMedicine（2022）
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