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Results by year

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

Year Number of Results
1977 2
1978 1
1980 1
1982 1
1983 2
1984 2
1985 4
1986 3
1987 7
1988 5
1989 2
1990 4
1991 5
1992 9
1993 9
1994 7
1995 10
1996 6
1997 8
1998 13
1999 19
2000 21
2001 11
2002 10
2003 15
2004 18
2005 14
2006 18
2007 13
2008 14
2009 21
2010 25
2011 17
2012 20
2013 17
2014 16
2015 18
2016 22
2017 19
2018 23
2019 12
2020 18
2021 14
2022 14
2023 3
Text availability
Article attribute
Article type
Publication date

Search Results

464 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, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2014 Apr 17 [updated 2020 Jul 23]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 24741715 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, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2020 Feb 6. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 32027475 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, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2016 Nov 22 [updated 2022 Mar 10]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 27891836 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.
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
Coene KLM, Kluijtmans LAJ, van der Heeft E, Engelke UFH, de Boer S, Hoegen B, Kwast HJT, van de Vorst M, Huigen MCDG, Keularts IMLW, Schreuder MF, van Karnebeek CDM, Wortmann SB, de Vries MC, Janssen MCH, Gilissen C, Engel J, Wevers RA. Coene KLM, et al. Among authors: wevers ra. J Inherit Metab Dis. 2018 May;41(3):337-353. doi: 10.1007/s10545-017-0131-6. Epub 2018 Feb 16. J Inherit Metab Dis. 2018. PMID: 29453510 Free PMC article.
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.
Cerebrotendinous xanthomatosis without neurological involvement.
Stelten BML, Raal FJ, Marais AD, Riksen NP, Roeters van Lennep JE, Duell PB, van der Graaf M, Kluijtmans LAJ, Wevers RA, Verrips A. Stelten BML, et al. Among authors: wevers ra. J Intern Med. 2021 Nov;290(5):1039-1047. doi: 10.1111/joim.13277. Epub 2021 Apr 8. J Intern Med. 2021. PMID: 33830582
464 results