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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2023
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalitiesKathleen A Drexler, Asha N Talati, Kelly L Gilmore, et al.Prenatal Diagnosis|January 29, 2024
The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart diseaseEmily Zhao, Miles Bomback, Atlas Khan, et al.American Journal of Medical Genetics. Part A|February 24, 2023
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathySarah C Harris, Karen Chong, David Chitayat, et al.Journal of Clinical and Translational Science|April 10, 2026
Expanding access to genomic analysis and reporting in research studies: The GENYSIS research coreKimberly S Foss, Tam P Sneddon, Eleanor P Fensterle, et al.Prenatal Diagnosis|December 3, 2025
The Perspectives and Experiences of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing in Continuing Pregnancies With Fetal Structural AnomaliesLisa S Weingarten, Allison Rosenbaum, Jessica de Voest, et al.American Journal of Human Genetics|September 10, 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorderHammad Yousaf, Maayke A de Koning, Kamal Khan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.Pageof 2