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

Year Number of Results
2003 2
2004 1
2005 2
2006 3
2007 3
2010 3
2011 5
2012 6
2013 7
2014 5
2015 10
2016 4
2017 9
2018 2
2019 4
2020 3
2021 2
2022 4
2023 2
2024 0

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62 results

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Page 1
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z, Østergaard E, Christodoulou J, Thorburn DR, Stroud DA, Compton AG. Amarasekera SSC, et al. Among authors: wibrand f. Hum Mol Genet. 2023 Jul 20;32(15):2441-2454. doi: 10.1093/hmg/ddad069. Hum Mol Genet. 2023. PMID: 37133451
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Zheng WQ, Pedersen SV, Thompson K, Bellacchio E, French CE, Munro B, Pearson TS, Vogt J, Diodato D, Diemer T, Ernst A, Horvath R, Chitre M, Ek J, Wibrand F, Grange DK, Raymond L, Zhou XL, Taylor RW, Ostergaard E. Zheng WQ, et al. Among authors: wibrand f. Hum Mol Genet. 2022 Feb 21;31(4):523-534. doi: 10.1093/hmg/ddab257. Hum Mol Genet. 2022. PMID: 34508595
Taurine and regulation of mitochondrial metabolism.
Hansen SH, Birkedal H, Wibrand F, Grunnet N. Hansen SH, et al. Among authors: wibrand f. Adv Exp Med Biol. 2015;803:397-405. doi: 10.1007/978-3-319-15126-7_30. Adv Exp Med Biol. 2015. PMID: 25833512 No abstract available.
Use of Molecular Genetic Analyses in Danish Routine Newborn Screening.
Lund AM, Wibrand F, Skogstrand K, Bækvad-Hansen M, Gregersen N, Andresen BS, Hougaard DM, Dunø M, Olsen RKJ. Lund AM, et al. Among authors: wibrand f. Int J Neonatal Screen. 2021 Jul 26;7(3):50. doi: 10.3390/ijns7030050. Int J Neonatal Screen. 2021. PMID: 34449524 Free PMC article.
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.
Effraimidis G, Rasmussen ÅK, Dunoe M, Hasholt LF, Wibrand F, Sorensen SS, Lund AM, Kober L, Bundgaard H, Yazdanfard PDW, Oturai P, Larsen VA, Fraga de Abreu VH, Enevoldsen LH, Kristensen T, Svenstrup K, Bille MB, Arif F, Mogensen M, Klokker M, Backer V, Kistorp C, Feldt-Rasmussen U. Effraimidis G, et al. Among authors: wibrand f. PLoS One. 2022 Nov 16;17(11):e0277767. doi: 10.1371/journal.pone.0277767. eCollection 2022. PLoS One. 2022. PMID: 36383556 Free PMC article.
Splenomegaly - Diagnostic validity, work-up, and underlying causes.
Curovic Rotbain E, Lund Hansen D, Schaffalitzky de Muckadell O, Wibrand F, Meldgaard Lund A, Frederiksen H. Curovic Rotbain E, et al. Among authors: wibrand f. PLoS One. 2017 Nov 14;12(11):e0186674. doi: 10.1371/journal.pone.0186674. eCollection 2017. PLoS One. 2017. PMID: 29135986 Free PMC article.
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.
Ravn K, Schönewolf-Greulich B, Hansen RM, Bohr AH, Duno M, Wibrand F, Ostergaard E. Ravn K, et al. Among authors: wibrand f. Mol Genet Metab Rep. 2015 Feb 20;3:5-10. doi: 10.1016/j.ymgmr.2015.01.004. eCollection 2015 Jun. Mol Genet Metab Rep. 2015. PMID: 26937387 Free PMC article.
62 results