Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1974 1
1976 2
1977 1
1985 1
1988 1
1989 3
1990 2
1991 1
1992 1
1993 5
1994 4
1995 4
1996 2
1997 3
1998 3
1999 2
2002 2
2003 2
2004 2
2005 2
2006 3
2007 5
2008 9
2009 4
2010 4
2011 6
2012 6
2013 5
2014 10
2015 6
2016 5
2017 4
2018 1
2019 3
2020 3
2021 3
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

105 results

Results by year

Filters applied: . Clear all
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.
Fatty acid oxidation defects.
von Döbeln U. von Döbeln U. Acta Paediatr Suppl. 1993 Jun;82 Suppl 389:88-90. doi: 10.1111/j.1651-2227.1993.tb12888.x. Acta Paediatr Suppl. 1993. PMID: 8374203 Review. No abstract available.
Carbohydrate-deficient transferrin in galactosaemia.
Stibler H, von Döbeln U, Kristiansson B, Guthenberg C. Stibler H, et al. Among authors: von dobeln u. Acta Paediatr. 1997 Dec;86(12):1377-8. doi: 10.1111/j.1651-2227.1997.tb14917.x. Acta Paediatr. 1997. PMID: 9475320 Clinical Trial.
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
105 results