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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.
Am J Hum Genet. 2019.
PMID: 31079897
Free PMC article.
Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivity RB1 germline deletion.
Eiset SE, Funding M, Racher H, Heegaard S, Gallie B, Urbak SF, Gregersen PA.
Eiset SE, et al.
Clin Case Rep. 2022 Mar 18;10(3):e05498. doi: 10.1002/ccr3.5498. eCollection 2022 Mar.
Clin Case Rep. 2022.
PMID: 35340648
Free PMC article.
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Congenital Tooth Agenesis and Risk of Early-Onset Cancer.
Eiset SE, Schraw J, Sørensen GV, Gregersen PA, Rasmussen SA, Ramlau-Hansen CH, Lupo PJ, Hasle H.
Eiset SE, et al.
JAMA Netw Open. 2024 Mar 4;7(3):e240365. doi: 10.1001/jamanetworkopen.2024.0365.
JAMA Netw Open. 2024.
PMID: 38488796
Free PMC article.
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