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Ligand distances as key predictors of pathogenicity and function in NMDA receptors.
Montanucci L, Brünger T, Bhattarai N, Boßelmann CM, Kim S, Allen JP, Zhang J, Klöckner C, Krey I, Fariselli P, May P, Lemke JR, Myers SJ, Yuan H, Traynelis SF, Lal D. Montanucci L, et al. Among authors: may p. Hum Mol Genet. 2024 Nov 13:ddae156. doi: 10.1093/hmg/ddae156. Online ahead of print. Hum Mol Genet. 2024. PMID: 39535073
Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2024 Oct 24:101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Adapting, implementing and evaluating a navigation intervention for older people with cancer and their family caregivers in six countries in Europe: the Horizon Europe-funded EU NAVIGATE project.
Miranda R, Smets T, Pivodic L, Chambaere K, Pesut B, Duggleby W, Onwuteaka-Philipsen BD, Gomes B, May P, Szczerbińska K, Davies AN, Ferraris D, Pasman HR, Furlan de Brito M, Barańska I, Gangeri L, Van den Block L. Miranda R, et al. Among authors: may p. Palliat Care Soc Pract. 2024 Oct 17;18:26323524241288873. doi: 10.1177/26323524241288873. eCollection 2024. Palliat Care Soc Pract. 2024. PMID: 39435050 Free PMC article.
1,514 results