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Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.

Autor: Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel. basel@post.tau.ac.il.; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel. basel@post.tau.ac.il.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. basel@post.tau.ac.il.; Felsenstein Medical Research Center, Petach Tikva, Israel. basel@post.tau.ac.il., Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel., Markus-Bustani K; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Ruhrman-Shahar N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Kilim Y; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Magal N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Hubshman MW; Baylor College of Medicine, Houston, TX, USA., Bazak L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jun; Vol. 21 (6), pp. 1443-1451. Date of Electronic Publication: 2018 Oct 31.