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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 2
2004 1
2005 1
2006 1
2007 2
2008 6
2009 2
2010 4
2011 6
2012 6
2013 5
2014 8
2015 3
2016 4
2017 5
2018 1
2019 3
2020 3
2021 3
2023 1
2024 0

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58 results

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Page 1
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, Arnell H, Johansson CB, Barbaro M, Björck E, Bruhn H, Eisfeldt J, Freyer C, Grigelioniene G, Gustavsson P, Hammarsjö A, Hellström-Pigg M, Iwarsson E, Jemt A, Laaksonen M, Enoksson SL, Malmgren H, Naess K, Nordenskjöld M, Oscarson M, Pettersson M, Rasi C, Rosenbaum A, Sahlin E, Sardh E, Stödberg T, Tesi B, Tham E, Thonberg H, Töhönen V, von Döbeln U, Vassiliou D, Vonlanthen S, Wikström AC, Wincent J, Winqvist O, Wredenberg A, Ygberg S, Zetterström RH, Marits P, Soller MJ, Nordgren A, Wirta V, Lindstrand A, Wedell A. Stranneheim H, et al. Among authors: von dobeln u. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
First Year of TREC-Based National SCID Screening in Sweden.
Göngrich C, Ekwall O, Sundin M, Brodszki N, Fasth A, Marits P, Dysting S, Jonsson S, Barbaro M, Wedell A, von Döbeln U, Zetterström RH. Göngrich C, et al. Among authors: von dobeln u. Int J Neonatal Screen. 2021 Aug 25;7(3):59. doi: 10.3390/ijns7030059. Int J Neonatal Screen. 2021. PMID: 34449549 Free PMC article.
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies.
Dezfouli M, Bergström S, Skattum L, Abolhassani H, Neiman M, Torabi-Rahvar M, Franco Jarava C, Martin-Nalda A, Ferrer Balaguer JM, Slade CA, Roos A, Fernandez Pereira LM, López-Trascasa M, Gonzalez-Granado LI, Allende-Martinez LM, Mizuno Y, Yoshida Y, Friman V, Lundgren Å, Aghamohammadi A, Rezaei N, Hernández-Gonzalez M, von Döbeln U, Truedsson L, Hara T, Nonoyama S, Schwenk JM, Nilsson P, Hammarström L. Dezfouli M, et al. Among authors: von dobeln u. Front Immunol. 2020 Mar 17;11:455. doi: 10.3389/fimmu.2020.00455. eCollection 2020. Front Immunol. 2020. PMID: 32256498 Free PMC article.
Heat differentiated complement factor profiling.
Hamsten C, Skattum L, Truedsson L, von Döbeln U, Uhlén M, Schwenk JM, Hammarström L, Nilsson P, Neiman M. Hamsten C, et al. Among authors: von dobeln u. J Proteomics. 2015 Aug 3;126:155-62. doi: 10.1016/j.jprot.2015.05.027. Epub 2015 Jun 3. J Proteomics. 2015. PMID: 26047714
Epidemiology of lysosomal storage diseases in Sweden.
Hult M, Darin N, von Döbeln U, Månsson JE. Hult M, et al. Among authors: von dobeln u. Acta Paediatr. 2014 Dec;103(12):1258-63. doi: 10.1111/apa.12807. Epub 2014 Oct 15. Acta Paediatr. 2014. PMID: 25274184
58 results