Canlyniadau Chwilio - Preisel, Martin

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families gan 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 gan 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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Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia gan 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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