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Page 1
Molecular based newborn screening in Germany: Follow-up for cystinosis.
Hohenfellner K, Bergmann C, Fleige T, Janzen N, Burggraf S, Olgemöller B, Gahl WA, Czibere L, Froschauer S, Röschinger W, Vill K, Harms E, Nennstiel U. Hohenfellner K, et al. Among authors: roschinger w. Mol Genet Metab Rep. 2019 Sep 18;21:100514. doi: 10.1016/j.ymgmr.2019.100514. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31641587 Free PMC article.
Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.
Nennstiel-Ratzel U, Arenz S, Maier EM, Knerr I, Baumkötter J, Röschinger W, Liebl B, Hadorn HB, Roscher AA, von Kries R. Nennstiel-Ratzel U, et al. Among authors: roschinger w. Mol Genet Metab. 2005 Jun;85(2):157-9. doi: 10.1016/j.ymgme.2004.12.010. Epub 2005 Feb 12. Mol Genet Metab. 2005. PMID: 15896661
Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].
Maier EM, Pongratz J, Muntau AC, Liebl B, Nennstiel-Ratzel U, Busch U, Fingerhut R, Olgemöller B, Roscher AA, Röschinger W. Maier EM, et al. Among authors: roschinger w. Clin Genet. 2009 Aug;76(2):179-87. doi: 10.1111/j.1399-0004.2009.01217.x. Clin Genet. 2009. PMID: 19780764
High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.
Czibere L, Burggraf S, Fleige T, Glück B, Keitel LM, Landt O, Durner J, Röschinger W, Hohenfellner K, Wirth B, Müller-Felber W, Vill K, Becker M. Czibere L, et al. Among authors: roschinger w. Eur J Hum Genet. 2020 Jan;28(1):23-30. doi: 10.1038/s41431-019-0476-4. Epub 2019 Jul 30. Eur J Hum Genet. 2020. PMID: 31363188 Free PMC article.
One Year of Newborn Screening for SMA - Results of a German Pilot Project.
Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, Burggraf S, Röschinger W, Durner J, Gläser D, Nennstiel U, Wirth B, Schara U, Jensen B, Becker M, Hohenfellner K, Müller-Felber W. Vill K, et al. Among authors: roschinger w. J Neuromuscul Dis. 2019;6(4):503-515. doi: 10.3233/JND-190428. J Neuromuscul Dis. 2019. PMID: 31594245 Free PMC article.
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H. Müller-Felber W, et al. Among authors: roschinger w. J Neuromuscul Dis. 2020;7(2):109-117. doi: 10.3233/JND-200475. J Neuromuscul Dis. 2020. PMID: 32144995 Free PMC article.
Erratum to "Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?".
Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H. Müller-Felber W, et al. Among authors: roschinger w. J Neuromuscul Dis. 2021;8(2):335-336. doi: 10.3233/JND-219002. J Neuromuscul Dis. 2021. PMID: 33579869 Free PMC article. No abstract available.
54 results