Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
Journal of Genetic Counseling|January 4, 2023
Elective genomic testing: Practice resource of the National Society of Genetic CounselorsCarrie L Blout Zawatsky, David Bick, Louise Bier, et al.
American Journal of Medical Genetics. Part A|September 24, 2017
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient seriesAnya Revah-Politi, Mythily Ganapathi, Louise Bier, et al.
Frontiers in Physiology|October 5, 2020
A Novel Kv7.3 Variant in the Voltage-Sensing S<sub>4</sub> Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and <i>in vitro</i> Rescue by β-HydroxybutyrateFrancesco Miceli, Lidia Carotenuto, Vincenzo Barrese, et al.
JAMA Neurology|April 24, 2014
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotesRoy N Alcalay, Tama Dinur, Timothy Quinn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2022
Diagnostic sequencing to support genetically stratified medicine in a tertiary care settingNatalie Lippa, Louise Bier, Anya Revah-Politi, et al.
Annals of Internal Medicine|November 27, 2018
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome SequencingHila Milo Rasouly, Emily E Groopman, Reuben Heyman-Kantor, et al.
Lancet (London, England)|February 5, 2019
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort studySlavé Petrovski, Vimla Aggarwal, Jessica L Giordano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disordersHalie J May, Jaehoon Jeong, Anya Revah-Politi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 2, 2019
Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening studyHila Milo Rasouly, Julia Wynn, Maddalena Marasa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 2, 2019
Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening studyHila Milo Rasouly, Julia Wynn, Maddalena Marasa, et al.
Pageof 3