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Human Mutation|October 24, 2018
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysisKelvin C de Andrade, Megan N Frone, Talia Wegman-Ostrosky, et al.Human Mutation|October 27, 2018
Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomyMariska Davids, Thomas Markello, Lynne A Wolfe, et al.Human Mutation|November 9, 2018
Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAsDaniela Scalet, Iva Maestri, Alessio Branchini, et al.Human Mutation|February 23, 2017
Accurate eQTL prioritization with an ensemble-based frameworkHaoyang Zeng, Matthew D Edwards, Yuchun Guo, et al.Human Mutation|February 24, 2017
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz SyndromeColleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, et al.Human Mutation|March 25, 2017
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficultiesJunpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, et al.Human Mutation|February 26, 2017
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disabilityLuciana Musante, Lucia Püttmann, Kimia Kahrizi, et al.Human Mutation|February 26, 2017
TarSeqQC: Quality control on targeted sequencing experiments in RGabriela A Merino, Yanina A Murua, Cristóbal Fresno, et al.Human Mutation|March 23, 2017
Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosisA Dessa Sadovnick, Ben J Gu, Anthony L Traboulsee, et al.Human Mutation|March 30, 2019
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotypeKonstantinos Kolokotronis, Jirko Kühnisch, Eva Klopocki, et al.Pageof 578