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

Year Number of Results
2001 1
2002 1
2003 3
2004 3
2005 1
2006 2
2007 2
2008 2
2009 2
2010 3
2011 2
2012 2
2013 3
2014 2
2015 3
2016 2
2017 1
2018 1
2019 7
2020 7
2022 2
2023 3
2024 1

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50 results

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Page 1
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G, Westra D, de Boer EN, van Berkel E, Hofste TGJ, van Zweeden M, Derks RC, Leijsten NFA, Ruiterkamp-Versteeg MHA, Charbon B, Johansson L, Bos-Kruizinga J, Veenstra IJ, de Sain-van der Velden MGM, Voorhoeve E, Heiner-Fokkema MR, van Spronsen F, Sikkema-Raddatz B, Nelen M. Kiewiet G, et al. Among authors: de sain van der velden mgm. Int J Neonatal Screen. 2024 Mar 7;10(1):20. doi: 10.3390/ijns10010020. Int J Neonatal Screen. 2024. PMID: 38535124 Free PMC article.
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases.
Willems AP, van der Ham M, Schiebergen-Bronkhorst BGM, van Aalderen M, de Barse MMJ, De Gruyter FE, van Hoek IN, Pras-Raves ML, de Sain-van der Velden MGM, Prinsen HCMT, Verhoeven-Duif NM, Jans JJM. Willems AP, et al. Among authors: de sain van der velden mgm. Front Mol Biosci. 2023 Nov 2;10:1283083. doi: 10.3389/fmolb.2023.1283083. eCollection 2023. Front Mol Biosci. 2023. PMID: 38028537 Free PMC article.
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: de sain van der velden mgm. Pediatr Blood Cancer. 2023 Jun;70(6):e30289. doi: 10.1002/pbc.30289. Epub 2023 Apr 3. Pediatr Blood Cancer. 2023. PMID: 37010353
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.
Bayat A, Aledo-Serrano A, Gil-Nagel A, Korff CM, Thomas A, Boßelmann C, Weber Y, Gardella E, Lund AM, de Sain-van der Velden MGM, Møller RS. Bayat A, et al. Among authors: de sain van der velden mgm. Dev Med Child Neurol. 2022 Jun;64(6):789-798. doi: 10.1111/dmcn.15142. Epub 2022 Jan 26. Dev Med Child Neurol. 2022. PMID: 35080266 Free article.
Neonatal carnitine concentrations in relation to gestational age and weight.
Crefcoeur LL, de Sain-van der Velden MGM, Ferdinandusse S, Langeveld M, Maase R, Vaz FM, Visser G, Wanders RJA, Wijburg FA, Verschoof-Puite RK, Schielen PCJI. Crefcoeur LL, et al. Among authors: de sain van der velden mgm. JIMD Rep. 2020 Sep 8;56(1):95-104. doi: 10.1002/jmd2.12162. eCollection 2020 Nov. JIMD Rep. 2020. PMID: 33204600 Free PMC article.
Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics.
Kerkhofs MHPM, Haijes HA, Willemsen AM, van Gassen KLI, van der Ham M, Gerrits J, de Sain-van der Velden MGM, Prinsen HCMT, van Deutekom HWM, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Kerkhofs MHPM, et al. Among authors: de sain van der velden mgm. Metabolites. 2020 May 18;10(5):206. doi: 10.3390/metabo10050206. Metabolites. 2020. PMID: 32443577 Free PMC article.
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
Knottnerus SJG, Pras-Raves ML, van der Ham M, Ferdinandusse S, Houtkooper RH, Schielen PCJI, Visser G, Wijburg FA, de Sain-van der Velden MGM. Knottnerus SJG, et al. Among authors: de sain van der velden mgm. Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165725. doi: 10.1016/j.bbadis.2020.165725. Epub 2020 Feb 19. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32061778 Free article.
50 results