Showing results (1491-1500 of 1,590) with videos related to
Sort By:
Pageof 159
Clinical Epigenetics|March 24, 2021
Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutationsJ Pei, M Schuldt, E Nagyova, et al.European Journal of Human Genetics : EJHG|March 31, 2025
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature reviewMilou G P Kennis, Dmitrijs Rots, Arjan Bouman, et al.International Journal of Surgery (London, England)|December 17, 2025
Using a composite end-point and WIN-ratio analysis to evaluate perineal wound healing after abdominoperineal resection for rectal cancer: further insights from the BIOPEX trialsRudolf van den Berg, Gijsbert D Musters, Saskia I Kreisel, et al.Journal of Medical Genetics|February 4, 2015
BRCA1 Circos: a visualisation resource for functional analysis of missense variantsAnkita Jhuraney, Aneliya Velkova, Randall C Johnson, et al.Genome Medicine|February 14, 2024
Genome sequencing as a generic diagnostic strategy for rare diseaseGaby Schobers, Ronny Derks, Amber den Ouden, et al.NPJ Genomic Medicine|November 16, 2021
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseqR Koster, R D Brandão, D Tserpelis, et al.Genome Medicine|September 18, 2023
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to humanJulia E Niskanen, Åsa Ohlsson, Ingrid Ljungvall, et al.Physical Review Letters|October 26, 2002
Electron-induced neutron knockout from 4HeA Misiejuk, Z Papandreou, E Voutier, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2021
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotypePaolo Zanoni, Katharina Steindl, Deepanwita Sengupta, et al.Human Mutation|February 1, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndromeAimée D C Paulussen, Alexander P A Stegmann, Marinus J Blok, et al.Pageof 159