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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2013 | 1 |
2017 | 1 |
2018 | 1 |
2019 | 2 |
2024 | 0 |
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE.
Dibbens LM, et al.
Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31.
Nat Genet. 2013.
PMID: 23542697
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Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
Tian WT, Huang XJ, Mao X, Liu Q, Liu XL, Zeng S, Guo XN, Shen JY, Xu YQ, Tang HD, Yin XM, Zhang M, Tang WG, Liu XR, Tang BS, Chen SD, Cao L.
Tian WT, et al.
Mov Disord. 2018 Mar;33(3):459-467. doi: 10.1002/mds.27274. Epub 2018 Jan 22.
Mov Disord. 2018.
PMID: 29356177
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The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.
Long S, Zhou H, Li S, Wang T, Ma Y, Li C, Zhou Y, Zhou S, Wu B, Wang Y.
Long S, et al.
Front Neurol. 2019 May 14;10:505. doi: 10.3389/fneur.2019.00505. eCollection 2019.
Front Neurol. 2019.
PMID: 31139143
Free PMC article.
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[Clinical and genetic characteristics of focal epilepsy in children caused by GATOR1 complex gene variation].
Deng J, Fang F, Wang XH, Dai LF, Tian XJ, Chen CH.
Deng J, et al.
Zhonghua Er Ke Za Zhi. 2019 Oct 2;57(10):780-785. doi: 10.3760/cma.j.issn.0578-1310.2019.10.010.
Zhonghua Er Ke Za Zhi. 2019.
PMID: 31594065
Chinese.
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