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Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophy.

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Title: Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophy.
Authors: Bzdok J; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, Munich, Germany.; Laboratory Becker MVZ GbR, Munich, Germany., Czibere L; Laboratory Becker MVZ GbR, Munich, Germany., Burggraf S; Laboratory Becker MVZ GbR, Munich, Germany., Landt O; TIB Molbiol Syntheselabor GmbH, Berlin, Germany., Maier EM; Laboratory Becker MVZ GbR, Munich, Germany., Röschinger W; Laboratory Becker MVZ GbR, Munich, Germany., Albert MH; Department of Paediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Hegert S; Screening-Labor Hannover, Hanover, Germany., Janzen N; Screening-Labor Hannover, Hanover, Germany.; Department of Clinical Chemistry, Hanover Medical School, Hanover, Germany.; Division of Laboratory Medicine, Centre for Children and Adolescents, Kinder- und Jugendkrankenhaus Auf der Bult, Hanover, Germany., Becker M; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, Munich, Germany.; Laboratory Becker MVZ GbR, Munich, Germany., Durner J; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, Munich, Germany.; Laboratory Becker MVZ GbR, Munich, Germany.
Source: PloS one [PLoS One] 2024 Jun 28; Vol. 19 (6), pp. e0306329. Date of Electronic Publication: 2024 Jun 28 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophy.
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  Data: <searchLink fieldCode="AU" term="%22Bzdok+J%22">Bzdok J</searchLink>; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, Munich, Germany.; Laboratory Becker MVZ GbR, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Czibere+L%22">Czibere L</searchLink>; Laboratory Becker MVZ GbR, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Burggraf+S%22">Burggraf S</searchLink>; Laboratory Becker MVZ GbR, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Landt+O%22">Landt O</searchLink>; TIB Molbiol Syntheselabor GmbH, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Maier+EM%22">Maier EM</searchLink>; Laboratory Becker MVZ GbR, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Röschinger+W%22">Röschinger W</searchLink>; Laboratory Becker MVZ GbR, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Albert+MH%22">Albert MH</searchLink>; Department of Paediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Hegert+S%22">Hegert S</searchLink>; Screening-Labor Hannover, Hanover, Germany.<br /><searchLink fieldCode="AU" term="%22Janzen+N%22">Janzen N</searchLink>; Screening-Labor Hannover, Hanover, Germany.; Department of Clinical Chemistry, Hanover Medical School, Hanover, Germany.; Division of Laboratory Medicine, Centre for Children and Adolescents, Kinder- und Jugendkrankenhaus Auf der Bult, Hanover, Germany.<br /><searchLink fieldCode="AU" term="%22Becker+M%22">Becker M</searchLink>; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, Munich, Germany.; Laboratory Becker MVZ GbR, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Durner+J%22">Durner J</searchLink>; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, Munich, Germany.; Laboratory Becker MVZ GbR, Munich, Germany.
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  Data: <searchLink fieldCode="JN" term="%22101285081%22">PloS one</searchLink> [PLoS One] 2024 Jun 28; Vol. 19 (6), pp. e0306329. <i>Date of Electronic Publication: </i>2024 Jun 28 (<i>Print Publication: </i>2024).
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