المؤلفون: Andrea Deres, Carolina Bäckman, Ellesiv S. Vestreim, Sofia Karlsson, Quim Bigas Bassart

المصدر: Peripeti. 17:178-195

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d368adad3ff3851800be4d4f9c9559d3
https://doi.org/10.7146/peri.v17i31.119197

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المؤلفون: Birgitta Strandvik, Abdul Rashid Qureshi, Johanna Painer, Carolina Backman-Johansson, Martin Engvall, Ole Fröbert, Jonas Kindberg, Peter Stenvinkel, Sylvain Giroud

المصدر: PLoS ONE, Vol 18, Iss 6, p e0285782 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0285782&type=printable; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/80fc79b1b8e14833ab9b0848ab8c3743

المؤلفون: Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, Karin Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann-Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf H. Zetterström, Per Marits, Maria Johansson Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell

المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Whole genome sequencing, Monogenic disease, Single nucleotide variant, Clinical diagnostics, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/24239a4e507a406db912b81371637d5d

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المؤلفون: Lene Sörensen, Ulrika von Döbeln, Henrik Åhlman, Annika Ohlsson, Martin Engvall, Karin Naess, Carolina Backman-Johansson, Yvonne Nordqvist, Anna Wedell, Rolf H. Zetterström

المصدر: International Journal of Neonatal Screening, Vol 6, Iss 2, p 42 (2020)

مصطلحات موضوعية: newborn screening, post-analytical evaluation, Collaborative Laboratory Integrated Reports (CLIR), tandem mass spectrometry, expanded screening, dried blood spots (DBS), Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/6/2/42; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/8f74b04e42a645e29c0998e60c0a8d1e