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

Year Number of Results
2006 1
2009 2
2010 6
2011 3
2012 2
2013 3
2014 1
2015 4
2016 3
2017 9
2018 7
2019 3
2020 1
2021 4
2022 1
2023 3
2024 0

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45 results

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Page 1
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Groeneweg S, et al. Among authors: de coo ifm. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Lancet Diabetes Endocrinol. 2020. PMID: 32559475 Free PMC article.
Consensus recommendations on Epilepsy in Phelan-McDermid syndrome.
de Coo IFM, Jesse S, Le TL, Sala C; European Phelan-McDermid syndrome consortium. de Coo IFM, et al. Eur J Med Genet. 2023 Jun;66(6):104746. doi: 10.1016/j.ejmg.2023.104746. Epub 2023 Mar 24. Eur J Med Genet. 2023. PMID: 36967043 Free article. Review.
Plasma GDF-15 concentration is not elevated in open-angle glaucoma.
Hubens WHG, Kievit MT, Berendschot TTJM, de Coo IFM, Smeets HJM, Webers CAB, Gorgels TGMF. Hubens WHG, et al. Among authors: de coo ifm. PLoS One. 2021 May 28;16(5):e0252630. doi: 10.1371/journal.pone.0252630. eCollection 2021. PLoS One. 2021. PMID: 34048486 Free PMC article.
De novo mtDNA point mutations are common and have a low recurrence risk.
Sallevelt SC, de Die-Smulders CE, Hendrickx AT, Hellebrekers DM, de Coo IF, Alston CL, Knowles C, Taylor RW, McFarland R, Smeets HJ. Sallevelt SC, et al. Among authors: de coo if. J Med Genet. 2017 Feb;54(2):73-83. doi: 10.1136/jmedgenet-2016-103876. Epub 2016 Jul 22. J Med Genet. 2017. PMID: 27450679 Free PMC article.
Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients.
Vallbona-Garcia A, Hamers IHJ, van Tienen FHJ, Ochoteco-Asensio J, Berendschot TTJM, de Coo IFM, Benedikter BJ, Webers CAB, Smeets HJM, Gorgels TGMF. Vallbona-Garcia A, et al. Among authors: de coo ifm. Exp Eye Res. 2023 Jul;232:109500. doi: 10.1016/j.exer.2023.109500. Epub 2023 May 11. Exp Eye Res. 2023. PMID: 37178956 Free article.
45 results