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Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland.
Barben J, Gallati S, Fingerhut R, Schoeni MH, Baumgartner MR, Torresani T; SWISS CF SCREENING GROUP. Barben J, et al. Among authors: fingerhut r. J Cyst Fibros. 2012 Jul;11(4):332-6. doi: 10.1016/j.jcf.2012.01.001. Epub 2012 Feb 1. J Cyst Fibros. 2012. PMID: 22300503 Free article.
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
Forny P, Schumann A, Mustedanagic M, Mathis D, Wulf MA, Nägele N, Langhans CD, Zhakupova A, Heeren J, Scheja L, Fingerhut R, Peters HL, Hornemann T, Thony B, Kölker S, Burda P, Froese DS, Devuyst O, Baumgartner MR. Forny P, et al. Among authors: fingerhut r. J Biol Chem. 2016 Sep 23;291(39):20563-73. doi: 10.1074/jbc.M116.747717. Epub 2016 Aug 12. J Biol Chem. 2016. PMID: 27519416 Free PMC article.
105 results