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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2013 | 2 |
2014 | 2 |
2015 | 1 |
2024 | 0 |
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5 results
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Page 1
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy.
Ann Neurol. 2015 Aug;78(2):323-8. doi: 10.1002/ana.24457. Epub 2015 Jul 1.
Ann Neurol. 2015.
PMID: 26068938
Free PMC article.
A nonsense mutation in IKBKB causes combined immunodeficiency.
Mousallem T, Yang J, Urban TJ, Wang H, Adeli M, Parrott RE, Roberts JL, Goldstein DB, Buckley RH, Zhong XP.
Mousallem T, et al.
Blood. 2014 Sep 25;124(13):2046-50. doi: 10.1182/blood-2014-04-571265. Epub 2014 Aug 18.
Blood. 2014.
PMID: 25139357
Free PMC article.
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TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function.
Gómez-Herreros F, Schuurs-Hoeijmakers JH, McCormack M, Greally MT, Rulten S, Romero-Granados R, Counihan TJ, Chaila E, Conroy J, Ennis S, Delanty N, Cortés-Ledesma F, de Brouwer AP, Cavalleri GL, El-Khamisy SF, de Vries BB, Caldecott KW.
Gómez-Herreros F, et al.
Nat Genet. 2014 May;46(5):516-21. doi: 10.1038/ng.2929. Epub 2014 Mar 23.
Nat Genet. 2014.
PMID: 24658003
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Absence in childhood absence epilepsy: the horse is out of the barn.
Vining EP, Thio LL.
Vining EP, et al.
Neurology. 2013 Oct 29;81(18):1564-5. doi: 10.1212/WNL.0b013e3182a9f57b. Epub 2013 Oct 2.
Neurology. 2013.
PMID: 24089389
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The epilepsy phenome/genome project.
EPGP Collaborative; Abou-Khalil B, Alldredge B, Bautista J, Berkovic S, Bluvstein J, Boro A, Cascino G, Consalvo D, Cristofaro S, Crumrine P, Devinsky O, Dlugos D, Epstein M, Fahlstrom R, Fiol M, Fountain N, Fox K, French J, Freyer Karn C, Friedman D, Geller E, Glauser T, Glynn S, Haas K, Haut S, Hayward J, Helmers S, Joshi S, Kanner A, Kirsch H, Knowlton R, Kossoff E, Kuperman R, Kuzniecky R, Lowenstein D, McGuire S, Motika P, Nesbitt G, Novotny E, Ottman R, Paolicchi J, Parent J, Park K, Poduri A, Risch N, Sadleir L, Scheffer I, Shellhaas R, Sherr E, Shih JJ, Shinnar S, Singh R, Sirven J, Smith M, Sullivan J, Thio LL, Venkat A, Vining E, von Allmen G, Weisenberg J, Widdess-Walsh P, Winawer M.
EPGP Collaborative, et al.
Clin Trials. 2013 Aug;10(4):568-86. doi: 10.1177/1740774513484392. Epub 2013 Jul 1.
Clin Trials. 2013.
PMID: 23818435
Free PMC article.
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