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1.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Article
in English
| MEDLINE | ID: mdl-31079897
2.
Congenital Tooth Agenesis and Risk of Early-Onset Cancer.
JAMA Netw Open
; 7(3): e240365, 2024 Mar 04.
Article
in English
| MEDLINE | ID: mdl-38488796
3.
Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivity RB1 germline deletion.
Clin Case Rep
; 10(3): e05498, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-35340648
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