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Human Mutation|October 23, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicingRaphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.Human Mutation|October 11, 2022
Revealing the functions of clonal driver gene mutations in patients based on evolutionary dependenciesYujia Lan, Wei Liu, Xiaobo Hou, et al.Human Mutation|September 1, 2022
A survey of current methods to detect and genotype inversionsVincent C T Hanlon, Peter M Lansdorp, Victor GuryevHuman Mutation|September 1, 2022
Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approachGiles S Holt, Lois E Batty, Bilal K S Alobaidi, et al.Human Mutation|March 6, 2021
Comprehensive characterization of Alu-mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL familiesCathy D Vocke, Christopher J Ricketts, Laura S Schmidt, et al.Human Mutation|September 30, 2022
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patientsMohamed H Al-Hamed, Maged H Hussein, Yaser Shah, et al.Human Mutation|January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiencyMarcello Scala, Saskia B Wortmann, Namik Kaya, et al.Human Mutation|January 10, 2022
Targeted next-generation sequencing in a large series of fetuses with severe renal diseasesPenelope Jordan, Guillaume Dorval, Christelle Arrondel, et al.Human Mutation|January 10, 2022
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion)Saeed R Ghaffari, Maryam Rafati, Mahdi Shadnoush, et al.Human Mutation|May 5, 2011
Characterization of copy number-stable regions in the human genomeAnna C V Johansson, Lars FeukPageof 577