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Year | Number of Results |
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2016 | 1 |
2019 | 2 |
2020 | 1 |
2024 | 0 |
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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
J Med Genet. 2016 Aug;53(8):511-22. doi: 10.1136/jmedgenet-2015-103451. Epub 2016 Mar 17.
J Med Genet. 2016.
PMID: 26989088
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y, Tokita MJ, Chen ES, Ghosh R, Chen T, Feng Y, Gorman E, Gibellini F, Ward PA, Braxton A, Wang X, Meng L, Xiao R, Bi W, Xia F, Eng CM, Yang Y, Gambin T, Shaw C, Liu P, Stankiewicz P.
Cao Y, et al.
Genome Med. 2019 Jul 26;11(1):48. doi: 10.1186/s13073-019-0658-2.
Genome Med. 2019.
PMID: 31349857
Free PMC article.
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Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.
Hoelz H, Herdl C, Gerstl L, Tacke M, Vill K, von Stuelpnagel C, Rost I, Hoertnagel K, Abicht A, Hollizeck S, Larsen LHG, Borggraefe I.
Hoelz H, et al.
Clin EEG Neurosci. 2020 Jan;51(1):61-69. doi: 10.1177/1550059419876518. Epub 2019 Sep 25.
Clin EEG Neurosci. 2020.
PMID: 31554424
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