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

Year Number of Results
2002 6
2003 5
2004 3
2005 8
2006 10
2007 5
2008 5
2009 10
2010 8
2011 6
2012 9
2013 14
2014 16
2015 14
2016 7
2017 6
2018 8
2019 5
2020 4
2021 4
2022 9
2023 3
2024 0

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142 results

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Page 1
Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.
Lhuissier C, Wagner BE, Vincent A, Garraux G, Hougrand O, Van Coster R, Benoit V, Karadurmus D, Lenaers G, Gueguen N, Chevrollier A, Maystadt I. Lhuissier C, et al. Among authors: van coster r. Front Neurol. 2022 Sep 23;13:937885. doi: 10.3389/fneur.2022.937885. eCollection 2022. Front Neurol. 2022. PMID: 36212643 Free PMC article.
Neonatal lactic acidosis explained by LARS2 defect.
De Paepe B, Smet J, Kopajtich R, Prokisch H, Van Coster R, Vanlander A. De Paepe B, et al. Among authors: van coster r. Pediatr Res. 2023 Mar;93(4):740-743. doi: 10.1038/s41390-022-02169-7. Epub 2022 Jun 24. Pediatr Res. 2023. PMID: 35750896 No abstract available.
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Schuermans N, Hemelsoet D, Terryn W, Steyaert S, Van Coster R, Coucke PJ, Steyaert W, Callewaert B, Bogaert E, Verloo P, Vanlander AV, Debackere E, Ghijsels J, LeBlanc P, Verdin H, Naesens L, Haerynck F, Callens S, Dermaut B, Poppe B; for UD-PrOZA. Schuermans N, et al. Among authors: van coster r. Orphanet J Rare Dis. 2022 May 23;17(1):210. doi: 10.1186/s13023-022-02365-y. Orphanet J Rare Dis. 2022. PMID: 35606766 Free PMC article.
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Among authors: van coster r. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function.
Rosier K, McDevitt MT, Smet J, Floyd BJ, Verschoore M, Marcaida MJ, Bingman CA, Lemmens I, Dal Peraro M, Tavernier J, Cravatt BF, Gounko NV, Vints K, Monnens Y, Bhalla K, Aerts L, Rashan EH, Vanlander AV, Van Coster R, Régal L, Pagliarini DJ, Creemers JWM. Rosier K, et al. Among authors: van coster r. iScience. 2021 Nov 14;24(12):103460. doi: 10.1016/j.isci.2021.103460. eCollection 2021 Dec 17. iScience. 2021. PMID: 34888501 Free PMC article.
Correction to: The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival.
Dewaele S, Delhaye L, De Paepe B, de Bony EJ, De Wilde J, Vanderheyden K, Anckaert J, Yigit N, Nuytens J, Vanden Eynde E, Smet J, Verschoore M, Nemati F, Decaudin D, Rodrigues M, Zhao P, Jochemsen A, Leucci E, Vandesompele J, Van Dorpe J, Marine JC, Van Coster R, Eyckerman S, Mestdagh P. Dewaele S, et al. Among authors: van coster r. Oncogene. 2022 Jan;41(1):146. doi: 10.1038/s41388-021-02051-6. Oncogene. 2022. PMID: 34782722 Free PMC article. No abstract available.
142 results