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International Journal of Cancer|January 12, 2026
Outcomes from the English National Lynch Syndrome transformation projectKevin J Monahan, Paul Fleming, Neil A J Ryan, et al.American Journal of Human Genetics|August 5, 2017
De Novo Mutations in YWHAG Cause Early-Onset EpilepsyIlaria Guella, Marna B McKenzie, Daniel M Evans, et al.BMJ Oncology|January 31, 2025
The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programmeKevin J Monahan, Neil Ryan, Laura Monje-Garcia, et al.Epilepsia|October 24, 2025
De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathiesGang Zhang, Yaping Lu, Lingling Xie, et al.Matrix Biology : Journal of the International Society for Matrix Biology|April 30, 2026
C-terminally clustered UGDH hypomorphic variants reveal subtle mechanisms of cellular and developmental disruptionHali Harwood, Brenna M Zimmer, Asher R Utz, et al.Human Mutation|February 11, 2011
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis ComplexMarianne Hoogeveen-Westerveld, Marjolein Wentink, Diana van den Heuvel, et al.Human Mutation|January 16, 2007
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot regionElke M Botzenhart, Gabriella Bartalini, Edward Blair, et al.Human Molecular Genetics|January 6, 2017
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disordersJochem M G Evers, Roman A Laskowski, Marta Bertolli, et al.Nature Communications|November 3, 2021
Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexityChristina Kyrousi, Adam C O'Neill, Agnieska Brazovskaja, et al.Neurology|April 1, 2016
Delineation of the movement disorders associated with FOXG1 mutationsApostolos Papandreou, Ruth B Schneider, Erika F Augustine, et al.Pageof 6