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Results by year

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

Year Number of Results
1993 3
2002 7
2003 11
2004 7
2005 9
2006 14
2007 8
2008 8
2009 19
2010 18
2011 16
2012 18
2013 17
2014 16
2015 15
2016 20
2017 18
2018 22
2019 13
2020 18
2021 13
2022 14
2023 11
2024 6

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274 results

Results by year

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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: wevers ra. 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.
SERAC1 Deficiency.
Wortmann SB, de Brouwer APM, Wevers RA, Morava E. Wortmann SB, et al. Among authors: wevers ra. 2014 Apr 17 [updated 2020 Jul 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Apr 17 [updated 2020 Jul 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24741715 Free Books & Documents. Review.
CLPB Deficiency.
Wortmann SB, Wevers RA. Wortmann SB, et al. Among authors: wevers ra. 2016 Nov 22 [updated 2022 Mar 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Nov 22 [updated 2022 Mar 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 27891836 Free Books & Documents. Review.
Squalene Synthase Deficiency.
Coman D, Vissers L, Waterham H, Christodoulou J, Wevers RA, Pitt J. Coman D, et al. Among authors: wevers ra. 2020 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2020 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 32027475 Free Books & Documents. Review.
Think big - think omics.
Wevers RA, Blau N. Wevers RA, et al. J Inherit Metab Dis. 2018 May;41(3):281-283. doi: 10.1007/s10545-018-0165-4. J Inherit Metab Dis. 2018. PMID: 29541953 No abstract available.
Movement disorders in cerebrotendinous xanthomatosis.
Stelten BML, van de Warrenburg BPC, Wevers RA, Verrips A. Stelten BML, et al. Among authors: wevers ra. Parkinsonism Relat Disord. 2019 Jan;58:12-16. doi: 10.1016/j.parkreldis.2018.07.006. Epub 2018 Jul 19. Parkinsonism Relat Disord. 2019. PMID: 30054180 Review.
Lactate and its many faces.
Taher M, Leen WG, Wevers RA, Willemsen MA. Taher M, et al. Among authors: wevers ra. Eur J Paediatr Neurol. 2016 Jan;20(1):3-10. doi: 10.1016/j.ejpn.2015.09.008. Epub 2015 Oct 9. Eur J Paediatr Neurol. 2016. PMID: 26481417 Review.
Neurometabolic disorders: Five new things.
Willemsen MA, Harting I, Wevers RA. Willemsen MA, et al. Among authors: wevers ra. Neurol Clin Pract. 2016 Aug;6(4):348-357. doi: 10.1212/CPJ.0000000000000266. Neurol Clin Pract. 2016. PMID: 29443118 Free PMC article. Review.
Lactate infusion as therapeutical intervention: a scoping review.
van Gemert LA, de Galan BE, Wevers RA, Ter Heine R, Willemsen MA. van Gemert LA, et al. Among authors: wevers ra. Eur J Pediatr. 2022 Jun;181(6):2227-2235. doi: 10.1007/s00431-022-04446-3. Epub 2022 Mar 18. Eur J Pediatr. 2022. PMID: 35304646 Free PMC article. Review.
The 3-methylglutaconic acidurias: what's new?
Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E. Wortmann SB, et al. Among authors: wevers ra. J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210-7. Epub 2010 Sep 30. J Inherit Metab Dis. 2012. PMID: 20882351 Free PMC article. Review.
274 results