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

Year Number of Results
2002 5
2003 7
2004 7
2005 6
2006 5
2007 6
2008 6
2009 4
2010 5
2011 5
2012 7
2013 3
2014 6
2015 7
2016 12
2017 14
2018 9
2019 10
2020 7
2021 3
2022 7
2023 6
2024 3

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133 results

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Page 1
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
van Karnebeek CDM, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, Prykhozhij SV, Pena IA, Ban K, Schock S, Saxena V, Pras-Raves ML, Drögemöller BI, Grootemaat AE, van der Wel NN, Dobritzsch D, Roseboom W, Schomakers BV, Jaspers YRJ, Zoetekouw L, Roelofsen J, Ferreira CR, van der Lee R, Ross CJ, Kochan J, McIntyre RL, van Klinken JB, van Weeghel M, Kramer G, Weschke B, Labrune P, Willemsen MA, Riva D, Garavaglia B, Moeschler JB, Filiano JJ, Ekker M, Berman JN, Dyment D, Vaz FM, Wassermann WW, Houtkooper RH, van Kuilenburg ABP. van Karnebeek CDM, et al. Among authors: van kuilenburg abp. Genet Med. 2024 Feb 24;26(6):101104. doi: 10.1016/j.gim.2024.101104. Online ahead of print. Genet Med. 2024. PMID: 38411040 Free article.
Dihydropyrimidine dehydrogenase gene variants for predicting grade 4-5 fluoropyrimidine-induced toxicity: FUSAFE individual patient data meta-analysis.
Le Teuff G, Cozic N, Boyer JC, Boige V, Diasio RB, Taieb J, Meulendijks D, Palles C, Schwab M, Deenen M, Largiadèr CR, Marinaki A, Jennings BA, Wettergren Y, Di Paolo A, Gross E, Budai B, Ackland SP, van Kuilenburg ABP, McLeod HL, Milano G, Thomas F, Loriot MA, Kerr D, Schellens JHM, Laurent-Puig P, Shi Q, Pignon JP, Etienne-Grimaldi MC; FUSAFE collaborative group. Le Teuff G, et al. Among authors: van kuilenburg abp. Br J Cancer. 2024 Mar;130(5):808-818. doi: 10.1038/s41416-023-02517-2. Epub 2024 Jan 15. Br J Cancer. 2024. PMID: 38225422
Optimising urinary catecholamine metabolite diagnostics for neuroblastoma.
Matser YAH, Verly IRN, van der Ham M, de Sain-van der Velden MGM, Verhoeven-Duif NM, Ash S, Cangemi G, Barco S, Popovic MB, van Kuilenburg ABP, Tytgat GAM; SIOPEN Catecholamine Working Group. Matser YAH, et al. Among authors: van kuilenburg abp. Pediatr Blood Cancer. 2023 Jun;70(6):e30289. doi: 10.1002/pbc.30289. Epub 2023 Apr 3. Pediatr Blood Cancer. 2023. PMID: 37010353
Anti-retroviral treatment with zidovudine alters pyrimidine metabolism, reduces translation, and extends healthy longevity via ATF-4.
McIntyre RL, Molenaars M, Schomakers BV, Gao AW, Kamble R, Jongejan A, van Weeghel M, van Kuilenburg ABP, Possemato R, Houtkooper RH, Janssens GE. McIntyre RL, et al. Among authors: van kuilenburg abp. Cell Rep. 2023 Jan 31;42(1):111928. doi: 10.1016/j.celrep.2022.111928. Epub 2022 Dec 30. Cell Rep. 2023. PMID: 36640360 Free article.
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Hermans ME, van Weeghel M, Vaz FM, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, van Kuilenburg ABP, Pras-Raves ML, Wamelink MMC, Wanders RJA, Welsink-Karssies MM, Bosch AM. Hermans ME, et al. Among authors: van kuilenburg abp. J Inherit Metab Dis. 2022 Nov;45(6):1094-1105. doi: 10.1002/jimd.12548. Epub 2022 Aug 25. J Inherit Metab Dis. 2022. PMID: 36053831
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Righetti S, Allcock RJN, Yaplito-Lee J, Adams L, Ellaway C, Jones KJ, Selvanathan A, Fletcher J, Pitt J, van Kuilenburg ABP, Delatycki MB, Laing NG, Kirk EP. Righetti S, et al. Among authors: van kuilenburg abp. Mol Genet Metab. 2022 Sep-Oct;137(1-2):62-67. doi: 10.1016/j.ymgme.2022.07.011. Epub 2022 Jul 25. Mol Genet Metab. 2022. PMID: 35926322
133 results