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

Year Number of Results
1991 1
1992 1
1993 4
1994 6
1995 2
1996 3
1997 4
1998 5
1999 5
2000 5
2001 4
2002 5
2003 1
2004 5
2005 2
2006 5
2007 8
2008 3
2009 2
2010 3
2011 9
2012 8
2013 5
2014 9
2015 10
2016 8
2017 5
2018 3
2019 10
2020 7
2021 10
2022 0
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Search Results

141 results
Results by year
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Page 1
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, Bjerin O, Gustavsson P, Hammarsjö A, Georgii-Hemming P, Iwarsson E, Johansson-Soller M, Lagerstedt-Robinson K, Lieden A, Magnusson M, Martin M, Malmgren H, Nordenskjöld M, Norling A, Sahlin E, Stranneheim H, Tham E, Wincent J, Ygberg S, Wedell A, Wirta V, Nordgren A, Lundin J, Nilsson D. Lindstrand A, et al. Among authors: wedell a. Genome Med. 2019 Nov 7;11(1):68. doi: 10.1186/s13073-019-0675-1. Genome Med. 2019. PMID: 31694722 Free PMC article.
Adenosine Kinase Deficiency: Report and Review.
Alhusani A, Obaid A, Blom HJ, Wedell A, Alfadhel M. Alhusani A, et al. Among authors: wedell a. Neuropediatrics. 2019 Feb;50(1):46-50. doi: 10.1055/s-0038-1676053. Epub 2018 Nov 26. Neuropediatrics. 2019. PMID: 30477030 Review.
Mitochondria in human disease.
Larsson NG, Wedell A. Larsson NG, et al. Among authors: wedell a. J Intern Med. 2020 Jun;287(6):589-591. doi: 10.1111/joim.13088. Epub 2020 May 14. J Intern Med. 2020. PMID: 32406555 No abstract available.
Disorders of sex development.
Barbaro M, Wedell A, Nordenström A. Barbaro M, et al. Among authors: wedell a. Semin Fetal Neonatal Med. 2011 Apr;16(2):119-27. doi: 10.1016/j.siny.2011.01.001. Semin Fetal Neonatal Med. 2011. PMID: 21303737 Review.
Loqusdb: added value of an observations database of local genomic variation.
Magnusson M, Eisfeldt J, Nilsson D, Rosenbaum A, Wirta V, Lindstrand A, Wedell A, Stranneheim H. Magnusson M, et al. Among authors: wedell a. BMC Bioinformatics. 2020 Jul 1;21(1):273. doi: 10.1186/s12859-020-03609-z. BMC Bioinformatics. 2020. PMID: 32611382 Free PMC article.
FBXL4 deficiency increases mitochondrial removal by autophagy.
Alsina D, Lytovchenko O, Schab A, Atanassov I, Schober FA, Jiang M, Koolmeister C, Wedell A, Taylor RW, Wredenberg A, Larsson NG. Alsina D, et al. Among authors: wedell a. EMBO Mol Med. 2020 Jul 7;12(7):e11659. doi: 10.15252/emmm.201911659. Epub 2020 Jun 11. EMBO Mol Med. 2020. PMID: 32525278 Free PMC article.
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.
Olivé M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG. Olivé M, et al. Among authors: wedell a. Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2. Nat Commun. 2019. PMID: 30918256 Free PMC article.
141 results