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Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: thorolfsdottir et. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200
[Increased use of genetic health care in Iceland 2012-2017].
Hognason HB, Stefansdottir VF, Thorolfsdottir ET, Jonsson JJ, Bjornsson HT. Hognason HB, et al. Among authors: thorolfsdottir et. Laeknabladid. 2022 Jan;108(1):11-16. doi: 10.17992/lbl.2022.01.670. Laeknabladid. 2022. PMID: 34927600 Free article. Icelandic.
Cloning, sequencing and overexpression of a Rhodothermus marinus gene encoding a thermostable cellulase of glycosyl hydrolase family 12.
Halldórsdóttir S, Thórólfsdóttir ET, Spilliaert R, Johansson M, Thorbjarnardóttir SH, Palsdottir A, Hreggvidsson GO, Kristjánsson JK, Holst O, Eggertsson G. Halldórsdóttir S, et al. Among authors: thorolfsdottir et. Appl Microbiol Biotechnol. 1998 Mar;49(3):277-84. doi: 10.1007/s002530051169. Appl Microbiol Biotechnol. 1998. PMID: 9581291