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

Year Number of Results
2002 1
2004 2
2005 3
2006 5
2007 4
2009 5
2010 3
2011 1
2012 2
2013 6
2014 10
2015 10
2016 2
2017 1
2018 4
2020 3
2021 2
2022 5
2023 1
2024 0

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59 results

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Page 1
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: smet j. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 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: smet j. 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.
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: smet j. Oncogene. 2022 Jan;41(1):15-25. doi: 10.1038/s41388-021-02006-x. Epub 2021 Sep 10. Oncogene. 2022. PMID: 34508176 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: smet j. 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.
TMEM70 deficiency: long-term outcome of 48 patients.
Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. Magner M, et al. Among authors: smet j. J Inherit Metab Dis. 2015 May;38(3):417-26. doi: 10.1007/s10545-014-9774-8. Epub 2014 Oct 18. J Inherit Metab Dis. 2015. PMID: 25326274
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: smet j. Oncogene. 2022 Jan;41(1):146. doi: 10.1038/s41388-021-02051-6. Oncogene. 2022. PMID: 34782722 Free PMC article. No abstract available.
New insights into the phenotype of FARS2 deficiency.
Vantroys E, Larson A, Friederich M, Knight K, Swanson MA, Powell CA, Smet J, Vergult S, De Paepe B, Seneca S, Roeyers H, Menten B, Minczuk M, Vanlander A, Van Hove J, Van Coster R. Vantroys E, et al. Among authors: smet j. Mol Genet Metab. 2017 Dec;122(4):172-181. doi: 10.1016/j.ymgme.2017.10.004. Epub 2017 Oct 12. Mol Genet Metab. 2017. PMID: 29126765 Free PMC article.
59 results