Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional Analysis. by Jan Henje Döring, Anette Lampert, Georg F Hoffmann, Markus Ries

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Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS by Bianca Peters, Felix Wiemers, Dominic Lenz, Stefan Kölker, Georg F. Hoffmann, Siegmund Köhler, Christian Staufner

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Risk Factors for Childhood Overweight and Obesity in Ukraine and Germany by Vira Yakovenko, Laura Henn, Markus Bettendorf, Natalia Zelinska, Galyna Soloviova, Georg F. Hoffmann, Juergen Grulich-Henn

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Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases by Oliver Y. Urban, Jan H. Driedger, Sven F. Garbade, Georg F. Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe

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Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy by Julian Schröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Steffen Syrbe, Sabine Jung-Klawitter

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Evaluation of Right Ventricular Function in Patients with Propionic Acidemia—A Cross-Sectional Study by Alexander Kovacevic, Sven F. Garbade, Friederike Hörster, Georg F. Hoffmann, Matthias Gorenflo, Derliz Mereles, Stefan Kölker, Christian Staufner

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A novel blended and interprofessional approach to pediatric emergency training: self-assessment, perception, and perceived long-term effects by Ronny Lehmann, Michaela Klinke Petrowsky, Anke Seitz, Jochen Meyburg, Walter Eppich, Georg F. Hoffmann, Burkhard Tönshoff, Sören Huwendiek

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Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria by Elaine Zaunseder, Ulrike Mütze, Sven F. Garbade, Saskia Haupt, Patrik Feyh, Georg F. Hoffmann, Vincent Heuveline, Stefan Kölker

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New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center by Gwendolyn Gramer, Saskia B. Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G. Okun, Holger Prokisch, Thomas Meitinger, Georg F. Hoffmann

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Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1 by Elaine Zaunseder, Julian Teinert, Nikolas Boy, Sven F. Garbade, Saskia Haupt, Patrik Feyh, Georg F. Hoffmann, Stefan Kölker, Ulrike Mütze, Vincent Heuveline

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Liver Cell Transplantation: Basic Investigations for Safe Application in Infants and Small Children by Jochen Meyburg, Krassimira Alexandrova, Marc Barthold, Sabine Kafert-Kasting, Andrea S. Schneider, Masoumeh Attaran, Friederike Hoerster, Jan Schmidt, Georg F. Hoffmann, Michael Ott

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Dipeptides in CSF and plasma: diagnostic and therapeutic potential in neurological diseases by Katharina Küper, Gernot Poschet, Julia Rossmann, Sven F. Garbade, Alexander Spiegelhalter, Dan Wen, Georg F. Hoffmann, Claus P. Schmitt, Thomas Opladen, Verena Peters

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A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry. by Rafael Tesorero, Joachim Janda, Friederike Hörster, Patrik Feyh, Ulrike Mütze, Jana Hauke, Kathrin Schwarz, Joachim B Kunz, Georg F Hoffmann, Jürgen G Okun

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Targeted Metabolomic Profiling of Total Fatty Acids in Human Plasma by Liquid Chromatography-Tandem Mass Spectrometry by Anas Al Aidaros, Charu Sharma, Claus-Dieter Langhans, Jürgen G. Okun, Georg F. Hoffmann, Majed Dasouki, Pranesh Chakraborty, Fatma Aljasmi, Osama Y. Al-Dirbashi

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Resource utilization and costs of transitioning from pediatric to adult care for patients with chronic autoinflammatory and autoimmune disorders by Daniela Choukair, Christian Patry, Ronny Lehmann, Dorothea Treiber, Georg F. Hoffmann, Corinna Grasemann, Normi Bruck, Reinhard Berner, Peter Burgard, Hanns-Martin Lorenz, Burkhard Tönshoff

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Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation by Dorothea Haas, Jana Hauke, Kathrin V. Schwarz, Lucia Consalvi, Friedrich K. Trefz, Nenad Blau, Georg F. Hoffmann, Peter Burgard, Sven F. Garbade, Jürgen G. Okun

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Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis by Pia Maier, Sumathy Jeyaweerasinkam, Janina Eberhard, Lina Soueidan, Susanne Hämmerling, Dirk Kohlmüller, Patrik Feyh, Gwendolyn Gramer, Sven F. Garbade, Georg F. Hoffmann, Jürgen G. Okun, Olaf Sommerburg

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aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment by 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, Steffen Syrbe, Sebastian Uhrig, Daniel Hübschmann, Heiko Brennenstuhl

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Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex by Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Alessia Di Nardo, Daria Turner, Tommy L. Lewis Jr., Christopher Conrad, Jonathan M. Rothberg, Jonathan O. Lipton, Stefan Kölker, Georg F. Hoffmann, Min-Joon Han, Franck Polleux, Mustafa Sahin

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Secondary use of patient data within decentralized studies using the example of rare diseases in Germany: A data scientist's exploration of process and lessons learned by Michele Zoch, Christian Gierschner, Anne-Katrin Andreeff, Elisa Henke, Martin Sedlmayr, Gabriele Müller, Jenny Tippmann, Helge Hebestreit, Daniela Choukair, Georg F. Hoffmann, Fleur Fritz-Kebede, Nicole Toepfner, Reinhard Berner, Stephanie Biergans, Raphael Verbücheln, Jannik Schaaf, Julia Fleck, Felix Nikolaus Wirth, Josef Schepers, Fabian Prasser

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