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. |
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| 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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| ISSN: | 1932-6203 |
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| DOI: | 10.1371/journal.pone.0306329 |
