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

Year Number of Results
2004 2
2005 2
2006 3
2007 1
2008 7
2009 1
2010 1
2011 1
2013 3
2014 1
2015 1
2016 2
2017 1
2018 2
2019 3
2020 2
2021 10
2022 8
2023 3

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Search Results

43 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: van der crabben sn. 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.
Identification of human D lactate dehydrogenase deficiency.
Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ. Monroe GR, et al. Among authors: van der crabben sn. Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6. Nat Commun. 2019. PMID: 30931947 Free PMC article.
Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case.
Bruyndonckx L, Vogelzang JL, Bugiani M, Straver B, Kuipers IM, Onland W, Nannenberg EA, Clur SA, van der Crabben SN. Bruyndonckx L, et al. Among authors: van der crabben sn. Am J Med Genet A. 2021 Aug;185(8):2464-2470. doi: 10.1002/ajmg.a.62231. Epub 2021 May 5. Am J Med Genet A. 2021. PMID: 33949776 Free PMC article. Review.
Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Fuchs SA, Schene IF, Kok G, Jansen JM, Nikkels PGJ, van Gassen KLI, Terheggen-Lagro SWJ, van der Crabben SN, Hoeks SE, Niers LEM, Wolf NI, de Vries MC, Koolen DA, Houwen RHJ, Mulder MF, van Hasselt PM. Fuchs SA, et al. Among authors: van der crabben sn. Genet Med. 2021 Oct;23(10):2024. doi: 10.1038/s41436-020-00966-1. Genet Med. 2021. PMID: 32934367 Free PMC article. No abstract available.
Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Fuchs SA, Schene IF, Kok G, Jansen JM, Nikkels PGJ, van Gassen KLI, Terheggen-Lagro SWJ, van der Crabben SN, Hoeks SE, Niers LEM, Wolf NI, de Vries MC, Koolen DA, Houwen RHJ, Mulder MF, van Hasselt PM. Fuchs SA, et al. Among authors: van der crabben sn. Genet Med. 2019 Feb;21(2):319-330. doi: 10.1038/s41436-018-0048-y. Epub 2018 Jun 6. Genet Med. 2019. PMID: 29875423 Free PMC article.
Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
Barendsen RW, Dijkstra IME, Visser WF, Alders M, Bliek J, Boelen A, Bouva MJ, van der Crabben SN, Elsinghorst E, van Gorp AGM, Heijboer AC, Jansen M, Jaspers YRJ, van Lenthe H, Metgod I, Mooij CF, van der Sluijs EHC, van Trotsenburg ASP, Verschoof-Puite RK, Vaz FM, Waterham HR, Wijburg FA, Engelen M, Dekkers E, Kemp S. Barendsen RW, et al. Among authors: van der crabben sn. Front Cell Dev Biol. 2021 Jan 28;9:631655. doi: 10.3389/fcell.2021.631655. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33585488 Free PMC article.
The Sports Cardiology Team: Personalizing Athlete Care Through a Comprehensive, Multidisciplinary Approach.
van Hattum JC, Verwijs SM, Senden PJ, Spies JL, Boekholdt SM, Groenink M, Panhuyzen-Goedkoop NM, Willems AR, Knobbe I, Blom NA, Wijne CACM, Reurink G, van der Crabben SN, Bijsterveld NR, Verhagen EALM, Pinto YM, Wilde AAM, Jørstad HT. van Hattum JC, et al. Among authors: van der crabben sn. Mayo Clin Proc Innov Qual Outcomes. 2022 Oct 12;6(6):525-535. doi: 10.1016/j.mayocpiqo.2022.08.006. eCollection 2022 Dec. Mayo Clin Proc Innov Qual Outcomes. 2022. PMID: 36267910 Free PMC article.
Adult GAMT deficiency: A literature review and report of two siblings.
Modi BP, Khan HN, van der Lee R, Wasim M, Haaxma CA, Richmond PA, Drögemöller B, Shah S, Salomons G, van der Kloet FM, Vaz FM, van der Crabben SN, Ross CJ, Wasserman WW, van Karnebeek CDM, Awan FR. Modi BP, et al. Among authors: van der crabben sn. Mol Genet Metab Rep. 2021 Apr 26;27:100761. doi: 10.1016/j.ymgmr.2021.100761. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33996490 Free PMC article.
43 results