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

Year Number of Results
1949 1
1950 1
1967 1
1978 1
1980 1
1981 1
1983 1
1985 3
1986 2
1989 1
1991 3
1992 4
1996 1
1997 3
1998 2
1999 3
2000 2
2001 3
2002 3
2004 2
2005 6
2006 2
2007 7
2008 5
2009 5
2010 9
2011 13
2012 13
2013 13
2014 6
2015 6
2016 10
2017 8
2018 10
2019 10
2020 10
2021 11
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163 results
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Page 1
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M, Saris CGJ, van den Berg LH, van Es MA, Zuidgeest DMH, Elting MW, van de Kamp JM, van Spaendonck-Zwarts KY, Die-Smulders C, Brilstra EH, Verschuuren CC, de Vries BBA, Bruijn J, Sofou K, Duijkers FA, Jaeger B, Schieving JH, van de Warrenburg BP, Kamsteeg EJ. Pennings M, et al. Among authors: schouten mi. Eur J Hum Genet. 2020 Jan;28(1):40-49. doi: 10.1038/s41431-019-0497-z. Epub 2019 Sep 5. Eur J Hum Genet. 2020. PMID: 31488895 Free PMC article.
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Westra D, et al. Among authors: schouten mi. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727
Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset.
Wassenberg T, Schouten MI, Helmich RC, Willemsen MAAP, Kamsteeg EJ, van de Warrenburg BPC. Wassenberg T, et al. Among authors: schouten mi. Parkinsonism Relat Disord. 2020 May;74:12-15. doi: 10.1016/j.parkreldis.2020.03.019. Epub 2020 Apr 1. Parkinsonism Relat Disord. 2020. PMID: 32278297
Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.
Duker AL, Niiler T, Kinderman D, Schouten M, Poll-The BT, Braverman N, Bober MB. Duker AL, et al. Among authors: schouten m. Am J Med Genet A. 2020 Mar;182(3):579-583. doi: 10.1002/ajmg.a.61413. Epub 2019 Nov 25. Am J Med Genet A. 2020. PMID: 31769196 No abstract available.
Inflammation, endothelium, and coagulation in sepsis.
Schouten M, Wiersinga WJ, Levi M, van der Poll T. Schouten M, et al. J Leukoc Biol. 2008 Mar;83(3):536-45. doi: 10.1189/jlb.0607373. Epub 2007 Nov 21. J Leukoc Biol. 2008. PMID: 18032692 Review.
163 results
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