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European Journal of Endocrinology|May 29, 2019
Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndromeAlena Welters, Ranna El-Khairi, Antonia Dastamani, et al.Journal of Genetic Counseling|May 9, 2003
DNA-sequence patenting: National Society of Genetic Counselors (NSGC) position paperNathalie McIntosh, Bonnie R Braddock, Kelly J Branda, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2025
Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 yearsKristin D Kernohan, Lauren Gallagher, Marie Pigeon, et al.Journal of Medical Genetics|September 26, 2024
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypesJoery den Hoed, Hirokazu Hashimoto, Mubeen Khan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliabilityRobin Z Hayeems, Stephanie Luca, Wendy J Ungar, et al.The Journal of Clinical Investigation|November 25, 2025
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessiveKatrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, et al.NPJ Genomic Medicine|June 2, 2017
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicineDimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.The Journal of Clinical Investigation|November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresDong Li, Qin Wang, Allan Bayat, et al.Pageof 2