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Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F, Bebin M, Dies K, Thompson C, Sparagana SP, Davies P, van Eeghen AM, Thiele EA, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: thompson c. Hum Mutat. 2013 Jan;34(1):167-75. doi: 10.1002/humu.22202. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22903760
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: thompson c. Hum Mutat. 2012 Mar;33(3):476-9. doi: 10.1002/humu.22007. Epub 2012 Jan 17. Hum Mutat. 2012. PMID: 22161988
Rare dysfunctional SCN2A variants are associated with malformation of cortical development.
Clatot J, Thompson CH, Sotardi S, Jiang J, Trivisano M, Balestrini S, Ward DI, Ginn N, Guaragni B, Malerba L, Vakrinou A, Sherer M, Helbig I, Somarowthu A, Sisodiya SM, Ben-Shalom R, Guerrini R, Specchio N, George AL Jr, Goldberg EM. Clatot J, et al. Among authors: thompson ch. Epilepsia. 2024 Dec 21. doi: 10.1111/epi.18234. Online ahead of print. Epilepsia. 2024. PMID: 39707911
Co-occurrence of SARS-CoV-2 variants in rivers and sewage in India and Brazil.
Thompson C, Leal CV, da Silva Faustino R, Leomil L, Jagadeeshwari U, Sharma R, de Oliveira M, Tschoeke D, Felix T, Macedo L, Khouri R, Koolen H, Landuci F, de Rezende C, Strobel Í, de Moraes L, P Ramos PI, de Souza H, Motta F, Barral-Netto M, Aguiar-Oliveira ML, de Siqueira M, Sasikala C, Thompson F. Thompson C, et al. Sci Total Environ. 2024 Dec 19;958:178089. doi: 10.1016/j.scitotenv.2024.178089. Online ahead of print. Sci Total Environ. 2024. PMID: 39705959
7,832 results