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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 1 |
2014 | 2 |
2015 | 3 |
2016 | 1 |
2024 | 0 |
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7 results
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Page 1
A roadmap for precision medicine in the epilepsies.
Lancet Neurol. 2015 Dec;14(12):1219-28. doi: 10.1016/S1474-4422(15)00199-4. Epub 2015 Sep 20.
Lancet Neurol. 2015.
PMID: 26416172
Free PMC article.
Review.
Epi4K: gene discovery in 4,000 genomes.
Epi4K Consortium.
Epi4K Consortium.
Epilepsia. 2012 Aug;53(8):1457-67. doi: 10.1111/j.1528-1167.2012.03511.x. Epub 2012 May 29.
Epilepsia. 2012.
PMID: 22642626
Free PMC article.
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Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy.
Epilepsy Phenome/Genome Project Epi4K Consortium.
Epilepsy Phenome/Genome Project Epi4K Consortium.
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.
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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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The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity.
Petrovski S, Gussow AB, Wang Q, Halvorsen M, Han Y, Weir WH, Allen AS, Goldstein DB.
Petrovski S, et al.
PLoS Genet. 2015 Sep 2;11(9):e1005492. doi: 10.1371/journal.pgen.1005492. eCollection 2015 Sep.
PLoS Genet. 2015.
PMID: 26332131
Free PMC article.
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The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes.
Gussow AB, Petrovski S, Wang Q, Allen AS, Goldstein DB.
Gussow AB, et al.
Genome Biol. 2016 Jan 18;17:9. doi: 10.1186/s13059-016-0869-4.
Genome Biol. 2016.
PMID: 26781712
Free PMC article.
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