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Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.

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Title: Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.
Authors: Fleige T; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany. t.fleige@labor-becker.de., Burggraf S; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany., Czibere L; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany., Häring J; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany., Glück B; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany., Keitel LM; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany., Landt O; TIB Molbiol GmbH, Eresburgstr. 22-23, 12103, Berlin, Germany., Harms E; University Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany., Hohenfellner K; Pediatric Nephrology, RoMed Klinikum Rosenheim, Pettenkoferstr. 10, 83022, Rosenheim, Germany., Durner J; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany.; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig Maximilian University Munich, Goethestr. 70, 80337, Munich, Germany., Röschinger W; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany., Becker M; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany.; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig Maximilian University Munich, Goethestr. 70, 80337, Munich, Germany.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Feb; Vol. 28 (2), pp. 193-201. Date of Electronic Publication: 2019 Sep 30.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.
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  Data: <searchLink fieldCode="AU" term="%22Fleige+T%22">Fleige T</searchLink>; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany. t.fleige@labor-becker.de.<br /><searchLink fieldCode="AU" term="%22Burggraf+S%22">Burggraf S</searchLink>; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Czibere+L%22">Czibere L</searchLink>; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Häring+J%22">Häring J</searchLink>; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Glück+B%22">Glück B</searchLink>; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Keitel+LM%22">Keitel LM</searchLink>; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Landt+O%22">Landt O</searchLink>; TIB Molbiol GmbH, Eresburgstr. 22-23, 12103, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Harms+E%22">Harms E</searchLink>; University Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Hohenfellner+K%22">Hohenfellner K</searchLink>; Pediatric Nephrology, RoMed Klinikum Rosenheim, Pettenkoferstr. 10, 83022, Rosenheim, Germany.<br /><searchLink fieldCode="AU" term="%22Durner+J%22">Durner J</searchLink>; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany.; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig Maximilian University Munich, Goethestr. 70, 80337, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Röschinger+W%22">Röschinger W</searchLink>; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Becker+M%22">Becker M</searchLink>; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany.; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig Maximilian University Munich, Goethestr. 70, 80337, Munich, Germany.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2020 Feb; Vol. 28 (2), pp. 193-201. <i>Date of Electronic Publication: </i>2019 Sep 30.
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              Text: 2020 Feb
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