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Year Number of Results
1994 2
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1999 4
2000 2
2001 9
2002 4
2003 2
2004 4
2005 1
2006 1
2007 5
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2009 1
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2024 5

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56 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: oscarson m. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
PARKIN is not required to sustain OXPHOS function in adult mammalian tissues.
Filograna R, Gerlach J, Choi HN, Rigoni G, Barbaro M, Oscarson M, Lee S, Tiklova K, Ringnér M, Koolmeister C, Wibom R, Riggare S, Nennesmo I, Perlmann T, Wredenberg A, Wedell A, Motori E, Svenningsson P, Larsson NG. Filograna R, et al. Among authors: oscarson m. NPJ Parkinsons Dis. 2024 Apr 29;10(1):93. doi: 10.1038/s41531-024-00707-0. NPJ Parkinsons Dis. 2024. PMID: 38684669 Free PMC article.
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.
Stepien KM, Langendonk JG, Dao M, Gomes DC, Douillard C, Filipsson K, Glamuzina E, Haverkamp JA, Langeveld M, Lehman A, de Lonlay P, Lund AM, Oscarson M, Peltenburg NC, Ramadža DP, Ramachandran R, Reismann P, Shtylla A, Tchan M, Tan CY, Wilson C, Woodall A, Murphy E, Wagenmakers MAEM. Stepien KM, et al. Among authors: oscarson m. J Inherit Metab Dis. 2024 Nov;47(6):1239-1259. doi: 10.1002/jimd.12695. Epub 2023 Dec 9. J Inherit Metab Dis. 2024. PMID: 38069502 Review.
Novel findings in a Swedish primary familial brain calcification cohort.
Sennfält S, Gustavsson P, Malmgren H, Gilland E, Almqvist H, Oscarson M, Engvall M, Björkhem I, Nilsson D, Lagerstedt-Robinson K, Svenningsson P, Paucar M. Sennfält S, et al. Among authors: oscarson m. J Neurol Sci. 2024 May 15;460:123020. doi: 10.1016/j.jns.2024.123020. Epub 2024 Apr 18. J Neurol Sci. 2024. PMID: 38642488 Free article.
56 results