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

Year Number of Results
2011 1
2012 2
2014 1
2015 3
2016 1
2017 2
2018 2
2019 1
2020 5
2021 5
2022 1
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23 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: engvall m. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.
Bruhn H, Samuelsson K, Schober FA, Engvall M, Lesko N, Wibom R, Nennesmo I, Calvo-Garrido J, Press R, Stranneheim H, Freyer C, Wedell A, Wredenberg A. Bruhn H, et al. Among authors: engvall m. Neurol Genet. 2021 Mar 15;7(2):e566. doi: 10.1212/NXG.0000000000000566. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33732874 Free PMC article.
[Ataxia - a group of heterogeneous diseases].
Paucar M, Dahl N, Engvall M, Svenningsson P, Solders G. Paucar M, et al. Among authors: engvall m. Lakartidningen. 2020 Mar 9;117:FX4F. Lakartidningen. 2020. PMID: 32154899 Free article. Swedish.
The impact of gender, puberty, and pregnancy in patients with POLG disease.
Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CME, Samsonsen C, Brodtkorb E, Ostergaard E, de Coo R, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA. Hikmat O, et al. Among authors: engvall m. Ann Clin Transl Neurol. 2020 Oct;7(10):2019-2025. doi: 10.1002/acn3.51199. Epub 2020 Sep 18. Ann Clin Transl Neurol. 2020. PMID: 32949115 Free PMC article.
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.
Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M, Hikmat O, Isohanni P, Kollberg G, Lindberg C, Majamaa K, Naess K, Uusimaa J, Tulinius M, Darin N. Björkman K, et al. Among authors: engvall m. J Med Genet. 2021 Dec 6:jmedgenet-2021-108006. doi: 10.1136/jmedgenet-2021-108006. Online ahead of print. J Med Genet. 2021. PMID: 34872991 Free 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: engvall m. Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2. Nat Commun. 2019. PMID: 30918256 Free PMC article.
23 results