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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA, FitzPatrick DR. Williamson KA, et al. Among authors: adams ggw. Genet Med. 2020 Mar;22(3):598-609. doi: 10.1038/s41436-019-0685-9. Epub 2019 Nov 8. Genet Med. 2020. PMID: 31700164 Free PMC article.
UK screening and treatment of retinopathy of prematurity Updated 2022 Guidelines.
Wilkinson AR, Adams GGW, Fleck BW, Nieto-Hernandez R; Guideline Development Groups (GDG) of the Royal College of Paediatrics and Child Health (RCPCH) and the Royal College of Ophthalmologists (RCOphth). Wilkinson AR, et al. Among authors: adams ggw. Early Hum Dev. 2023 Mar;177-178:105715. doi: 10.1016/j.earlhumdev.2023.105715. Epub 2023 Jan 25. Early Hum Dev. 2023. PMID: 36780724 Free article. No abstract available.
60 results