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  1. Töpf, Ana; Johnson, Katherine; Bates, Adam; Phillips, Lauren; Chao, Katherine R.; England, Eleina M.; Laricchia, Kristen M.; Mullen, Thomas; Valkanas, Elise; Xu, Liwen; Bertoli, Marta; Blain, Alison; Casasús, Ana B.; Duff, Jennifer; Mroczek, Magdalena; Specht, Sabine; Lek, Monkol; Ensini, Monica; MacArthur, Daniel G.; Akay, Ela; Alonso-Pérez, Jorge; Baets, Jonathan; Barisic, Nina; Bastian, Alexandra; [...]

    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

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    Elsevier BV, 2020

    Published in: Genetics in Medicine

  2. Schwartz, Oliver; Vill, Katharina; Pfaffenlehner, Michelle; Behrens, Max; Weiß, Claudia; Johannsen, Jessika; Friese, Johannes; Hahn, Andreas; Ziegler, Andreas; Illsinger, Sabine; Smitka, Martin; von Moers, Arpad; Kölbel, Heike; Schreiber, Gudrun; Kaiser, Nadja; Wilichowski, Ekkehard; Flotats-Bastardas, Marina; Husain, Ralf A.; Baumann, Matthias; Köhler, Cornelia; Trollmann, Regina; Schwerin-Nagel, Annette; Eisenkölbl, Astrid; Schimmel, Mareike; [...]

    Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy : A Nonrandomized Controlled Trial : A Nonrandomized Controlled Trial

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    American Medical Association (AMA), 2024

    Published in: JAMA Pediatrics