Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia by Schröder, Simone, Li, Yun, Yigit, Gökhan, Altmüller, Janine, Bader, Ingrid, Bevot, Andrea, Biskup, Saskia, Dreha-Kulaczewski, Steffi, Christoph Korenke, G, Kottke, Raimund, Mayr, Johannes A, Preisel, Martin, Toelle, Sandra P, Wente-Schulz, Sarah, Wortmann, Saskia B, Hahn, Heidi, Boltshauser, Eugen, Uhmann, Anja, Wollnik, Bernd, Brockmann, Knut

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Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions by Feichtinger, René G, Preisel, Martin, Brugger, Karin, Wortmann, Saskia B, Mayr, Johannes A

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A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome by Feichtinger, René G, Preisel, Martin, Steinbrücker, Katja, Brugger, Karin, Radda, Alexandra, Wortmann, Saskia B, Mayr, Johannes A

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Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families by Spenger, Johannes, Maier, Esther M, Wechselberger, Katharina, Bauder, Florian, Kocher, Melanie, Sperl, Wolfgang, Preisel, Martin, Schiergens, Katharina A, Konstantopoulou, Vassiliki, Röschinger, Wulf, Häberle, Johannes, Schmitt-Mechelke, Thomas, Wortmann, Saskia B, Fingerhut, Ralph

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Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen . 2021, 7 , 32 by Spenger, Johannes, Maier, Esther M, Wechselberger, Katharina, Bauder, Florian, Kocher, Melanie, Sperl, Wolfgang, Preisel, Martin, Schiergens, Katharina A, Konstantopoulou, Vassiliki, Röschinger, Wulf, Häberle, Johannes, Schmitt-Mechelke, Thomas, Wortmann, Saskia B, Fingerhut, Ralph

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Case Report—An Inherited Loss-of-Function INRXN3/I Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions... by Feichtinger, René G, Preisel, Ma, Brugger, Karin, Wortmann, Saskia B, Mayr, Johannes A

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A ITSHZ3/I Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome by Feichtinger, René G, Preisel, Ma, Steinbrücker, Katja, Brugger, Karin, Radda, Alexandra, Wortmann, Saskia B, Mayr, Johannes A

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Blood parameters in pediatric myelin oligodendrocyte glycoprotein antibody-associated disorders by Peternell, Alina, Lechner, Christian, Breu, Markus, Preisel, Martin, Schimmel, Mareike, Eisenkölbl, Astrid, Zobel, Joachim, Wendel, Eva-Maria, Reindl, Markus, Rostásy, Kevin, Baumann, Matthias

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Next-Generation-Sequenzierung – Next-Generation-Qualität in der Pädiatrie by Wortmann, Saskia B., Spenger, Johannes, Preisel, Martin, Koch, Johannes, Rauscher, Christian, Bader, Ingrid, Mayr, Johannes A., Sperl, Wolfgang

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Positive troponin T without cardiac involvement in inclusion body myositis by Schwarzmeier, Josef D., Hamwi, Ahmad, Preisel, Martin, Resl, Christoph, Preusser, Matthias, Sluga, Elfriede, Horcher, Ernst, Shehata, Medhat M.

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Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions by Feichtinger, René G, Preisel, Martin, Brugger, Karin, Wortmann, Saskia B, Mayr, Johannes A

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A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome by Feichtinger, René G, Preisel, Martin, Steinbrücker, Katja, Brugger, Karin, Radda, Alexandra, Wortmann, Saskia B, Mayr, Johannes A

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Trade-offs between wind energy, recreational, and bark-beetle impacts on visual preferences of national park visitors by Arnberger, Arne, Eder, Renate, Allex, Brigitte, Preisel, Hemma, Ebenberger, Martin, Husslein, Maria

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Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study by Tassoni, Adrian, Wenzel, Franziska, Vogt, Sibylle, Zöller, Daniela, Hagenacker, Tim, Schara-Schmidt, Ulrike, Bertsche, Astrid, Vill, Katharina, Baumann, Matthias, Hahn, Andreas, Horber, Veronka, Jahnel, Jörg, von Moers, Arpad, Schreiber, Gudrun, Schwartz, Oliver, Weiss, Claudia, Ziegler, Andreas, Lochmüller, Hanns, Ameshofer, Lisa, Andres, Barbara, Banholzer, Daniela, Bant, Christina, Baum, Petra, Bellut, Julia, Bevot, Andrea, Bischofberger, Jasmin, Bitzan, Lisa, Bjelica, Bogdan, Blankenburg, Markus, Bonetti, Friederike, Bongartz, Anke, Brakemeier, Svenja, Bratka, Lisa, Braun, Sarah, Bretschneider, Christa, Burke, Bea, de Vries, Heike, Denecke, Jonas, Dibrani, Zylfie, Drebes, Jessica, Fischer, Michal, Fischer, Cornelia, Freigang, Maren, Gosk-Tomek, Magdalena, Gross, Martin, Hiebeler, Miriam, Horneff, Viola, Hubert, Andrea, Jansen, Eva, Kappel, Stefan, Katharina, Bolte, Kölke, Stefan, Kostede, Franziska, Küpper, Hanna, Lehmann, Helmar, Leypold, Christine, Lingor, Paul, Lipka, Jaqueline, Malm, Eva, Müller, Petra, Müller, Anne, Neuwirth, Christoph, Niesert, Moritz, Pauschek, Josefine, Pernegger, Elke, Pilshofer, Veronika, Plecko, Barbara, Preisel, Martin, Pühringer, Manuel, Quinten, Anna Lisa, Reckmann, Kerstin, Roland-Schäfer, Doris, Roth, Erdmute, Saffari, Afshin, Schlag, Melina, Schreiner, Isabella, Semmler, Luisa, Smuda, Karin, Sprenger-Svacina, Alina, Stadler, Theresa, Steuernagel, Daniela, Tasch, Gehrke, Thimm, Andreas, Tiefenthaler, Elke, Türk, Matthias, van der Stam, Lieske, Vollmann, Peter, Vorgerd, Matthias, Weiss, Deike, Wenninger, Stephan, Werring, Svea, Wessel, Maria, Weyen, Ute, Wider, Sabine, Wiesenhofer, Anna, Wiethoff, Sarah, Wunderlich, Gilbert, Zeller, Daniel, Zemlin, Michael, Zobel, Joachim

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