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RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.
Samra N, Toubiana S, Yttervik H, Tzur-Gilat A, Morani I, Itzkovich C, Giladi L, Abu Jabal K, Cao JZ, Godley LA, Mory A, Baris Feldman H, Tveten K, Selig S, Weiss K. Samra N, et al. Among authors: selig s. J Hum Genet. 2021 Nov;66(11):1101-1112. doi: 10.1038/s10038-021-00931-z. Epub 2021 May 13. J Hum Genet. 2021. PMID: 33980986
Position effect of human telomeric repeats on replication timing.
Ofir R, Wong AC, McDermid HE, Skorecki KL, Selig S. Ofir R, et al. Among authors: selig s. Proc Natl Acad Sci U S A. 1999 Sep 28;96(20):11434-9. doi: 10.1073/pnas.96.20.11434. Proc Natl Acad Sci U S A. 1999. PMID: 10500194 Free PMC article.
134 results