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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
Chromosome structure and eukaryotic gene organization.
Kitsberg D, Selig S, Cedar H. Kitsberg D, et al. Among authors: selig s. Curr Opin Genet Dev. 1991 Dec;1(4):534-7. doi: 10.1016/s0959-437x(05)80204-7. Curr Opin Genet Dev. 1991. PMID: 1822286 Review.
136 results