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

Year Number of Results
2008 1
2009 1
2010 2
2011 2
2015 2
2016 3
2017 3
2018 4
2019 2
2020 6
2021 9
2022 7
2023 6
2024 1

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41 results

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Page 1
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Wortmann SB, Oud MM, Alders M, Coene KLM, van der Crabben SN, Feichtinger RG, Garanto A, Hoischen A, Langeveld M, Lefeber D, Mayr JA, Ockeloen CW, Prokisch H, Rodenburg R, Waterham HR, Wevers RA, van de Warrenburg BPC, Willemsen MAAP, Wolf NI, Vissers LELM, van Karnebeek CDM. Wortmann SB, et al. Among authors: coene klm. J Inherit Metab Dis. 2022 Jul;45(4):663-681. doi: 10.1002/jimd.12507. Epub 2022 May 22. J Inherit Metab Dis. 2022. PMID: 35506430 Free PMC article. Review.
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
Peters TMA, Engelke UFH, de Boer S, Reintjes JTG, Roullet JB, Broekman S, de Vrieze E, van Wijk E, Wamelink MMC, Artuch R, Barić I, Merx J, Boltje TJ, Martens J, Willemsen MAAP, Verbeek MM, Wevers RA, Gibson KM, Coene KLM. Peters TMA, et al. Among authors: coene klm. J Inherit Metab Dis. 2023 Jul 16. doi: 10.1002/jimd.12657. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37455357 Review.
Clinical Reasoning: Pediatric Seizures of Unknown Cause.
Tseng LA, Hoytema van Konijnenburg EMM, Longo N, Andrews A, van Wegberg A, Coene KLM, Coughlin CR 2nd, van Karnebeek CDM. Tseng LA, et al. Among authors: coene klm. Neurology. 2022 Jun 14;98(24):1023-1028. doi: 10.1212/WNL.0000000000200711. Epub 2022 Apr 25. Neurology. 2022. PMID: 35470136
CAD mutations and uridine-responsive epileptic encephalopathy.
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB. Koch J, et al. Brain. 2017 Feb;140(2):279-286. doi: 10.1093/brain/aww300. Epub 2016 Dec 21. Brain. 2017. PMID: 28007989
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.
Merx J, van Outersterp RE, Engelke UFH, Hendriks V, Wevers RA, Huigen MCDG, Waterval HWAH, Körver-Keularts IMLW, Mecinović J, Rutjes FPJT, Oomens J, Coene KLM, Martens J, Boltje TJ. Merx J, et al. Among authors: coene klm. Commun Biol. 2022 Sep 21;5(1):997. doi: 10.1038/s42003-022-03960-2. Commun Biol. 2022. PMID: 36131087 Free PMC article.
Subclinical hypothyroidism: a 'laboratory-induced' condition?
Coene KL, Demir AY, Broeren MA, Verschuure P, Lentjes EG, Boer AK. Coene KL, et al. Eur J Endocrinol. 2015 Oct;173(4):499-505. doi: 10.1530/EJE-15-0684. Epub 2015 Jul 28. Eur J Endocrinol. 2015. PMID: 26221013
Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy.
van Outersterp RE, Engelke UFH, Merx J, Berden G, Paul M, Thomulka T, Berkessel A, Huigen MCDG, Kluijtmans LAJ, Mecinović J, Rutjes FPJT, van Karnebeek CDM, Wevers RA, Boltje TJ, Coene KLM, Martens J, Oomens J. van Outersterp RE, et al. Among authors: coene klm. Anal Chem. 2021 Nov 23;93(46):15340-15348. doi: 10.1021/acs.analchem.1c02896. Epub 2021 Nov 10. Anal Chem. 2021. PMID: 34756024 Free PMC article.
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism.
van Outersterp RE, Moons SJ, Engelke UFH, Bentlage H, Peters TMA, van Rooij A, Huigen MCDG, de Boer S, van der Heeft E, Kluijtmans LAJ, van Karnebeek CDM, Wevers RA, Berden G, Oomens J, Boltje TJ, Coene KLM, Martens J. van Outersterp RE, et al. Among authors: coene klm. Commun Biol. 2021 Mar 19;4(1):367. doi: 10.1038/s42003-021-01909-5. Commun Biol. 2021. PMID: 33742102 Free PMC article.
41 results