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Human Mutation|September 24, 2017
Molecular and clinical spectra of FBXL4 deficiencyAyman W El-Hattab, Hongzheng Dai, Mohammed Almannai, et al.Acta Neurologica Taiwanica|April 25, 2026
Taiwan Clinical Practice Guidelines for Myasthenia GravisHsu-Ling Yeh, Che-Cheng Chang, An-Bang Liu, et al.Nature|July 10, 2009
A highly annotated whole-genome sequence of a Korean individualJong-Il Kim, Young Seok Ju, Hansoo Park, et al.Neurobiology of Aging|December 27, 2016
ATXN2 trinucleotide repeat length correlates with risk of ALSWilliam Sproviero, Aleksey Shatunov, Daniel Stahl, et al.Nature Cell Biology|May 26, 2022
Pan-cancer pervasive upregulation of 3' UTR splicing drives tumourigenesisJia Jia Chan, Bin Zhang, Xiao Hong Chew, et al.American Journal of Medical Genetics. Part A|December 20, 2016
Down syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Andrew K Sobering, et al.JAMA Neurology|November 29, 2024
Disease Severity Staging System for NOTCH3-Associated Small Vessel Disease, Including CADASILGido Gravesteijn, Julie W Rutten, Minne N Cerfontaine, et al.International Journal of Cancer|April 19, 2018
Pre-diagnostic blood immune markers, incidence and progression of B-cell lymphoma and multiple myeloma: Univariate and functionally informed multivariate analysesRoel Vermeulen, Fatemeh Saberi Hosnijeh, Barbara Bodinier, et al.Science (New York, N.Y.)|November 30, 2023
Visualizing the DNA repair process by a photolyase at atomic resolutionManuel Maestre-Reyna, Po-Hsun Wang, Eriko Nango, et al.Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.Pageof 148