Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
2004 2
2005 2
2006 1
2007 1
2008 2
2009 2
2010 4
2011 1
2012 5
2016 2
2017 3
2018 1
2019 1
2021 1
2024 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

24 results

Results by year

Filters applied: . Clear all
Page 1
Recurrent KIF2A mutations are responsible for classic lissencephaly.
Cavallin M, Bijlsma EK, El Morjani A, Moutton S, Peeters EA, Maillard C, Pedespan JM, Guerrot AM, Drouin-Garaud V, Coubes C, Genevieve D, Bole-Feysot C, Fourrage C, Steffann J, Bahi-Buisson N. Cavallin M, et al. Neurogenetics. 2017 Apr;18(2):73-79. doi: 10.1007/s10048-016-0499-8. Epub 2016 Oct 17. Neurogenetics. 2017. PMID: 27747449
De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
Martin R, Splitt M, Genevieve D, Aten E, Collins A, de Bie CI, Faivre L, Foulds N, Giltay J, Ibitoye R, Joss S, Kennedy J, Kerr B, Kivuva E, Koopmans M, Newbury-Ecob R, Jean-Marçais N, Peeters EAJ, Smithson S, Tomkins S, Tranmauthem F, Piton A, van Haeringen A. Martin R, et al. Among authors: peeters eaj. Eur J Hum Genet. 2019 Nov;27(11):1677-1682. doi: 10.1038/s41431-019-0413-6. Epub 2019 Jun 14. Eur J Hum Genet. 2019. PMID: 31201375 Free PMC article.
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M. Santen GW, et al. Nat Genet. 2012 Mar 18;44(4):379-80. doi: 10.1038/ng.2217. Nat Genet. 2012. PMID: 22426309
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H. Roscioli T, et al. Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253. Nat Genet. 2012. PMID: 22522421 Free PMC article.
Non-motor symptoms and quality of life in dopa-responsive dystonia patients.
Timmers ER, Kuiper A, Smit M, Bartels AL, Kamphuis DJ, Wolf NI, Poll-The BT, Wassenberg T, Peeters EAJ, de Koning TJ, Tijssen MAJ. Timmers ER, et al. Among authors: peeters eaj. Parkinsonism Relat Disord. 2017 Dec;45:57-62. doi: 10.1016/j.parkreldis.2017.10.005. Epub 2017 Oct 10. Parkinsonism Relat Disord. 2017. PMID: 29066160
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER, Peeters EA, Gómez Garcia EB, van der Knaap MS, Lincke CR, Laan LA, Tijssen MA, van Rijn MA, Majoor-Krakauer D, Visser M, van 't Veer LJ, Kleijer WJ, van de Warrenburg BP, Warris A, de Groot IJ, de Groot R, Broeks A, Preijers F, Kremer BH, Weemaes CM, Taylor MA, van Deuren M, Willemsen MA. Verhagen MM, et al. Hum Mutat. 2012 Mar;33(3):561-71. doi: 10.1002/humu.22016. Epub 2012 Jan 25. Hum Mutat. 2012. PMID: 22213089
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA. Bijlsma EK, et al. Eur J Med Genet. 2012 Jun;55(6-7):404-13. doi: 10.1016/j.ejmg.2012.02.009. Epub 2012 Mar 29. Eur J Med Genet. 2012. PMID: 22522176 Free PMC article.
Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study.
Ketelslegers IA, Catsman-Berrevoets CE, Neuteboom RF, Boon M, van Dijk KG, Eikelenboom MJ, Gooskens RH, Niks EH, Overweg-Plandsoen WC, Peeters EA, Peeters-Scholte CM, Poll-The BT, de Rijk-van Andel JF, Samijn JP, Snoeck IN, Stroink H, Vermeulen RJ, Verrips A, Vles JS, Willemsen MA, Rodrigues Pereira R, Hintzen RQ. Ketelslegers IA, et al. J Neurol. 2012 Sep;259(9):1929-35. doi: 10.1007/s00415-012-6441-6. Epub 2012 Feb 17. J Neurol. 2012. PMID: 22349866 Free PMC article.
24 results