Showing results (1831-1840 of 1,858) with videos related to

Sort By:
Pageof 186
Nature|September 23, 2011
Deep sequencing reveals 50 novel genes for recessive cognitive disordersHossein Najmabadi, Hao Hu, Masoud Garshasbi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 23, 2018
Correction: Putting genome-wide sequencing in neonates into perspectivePleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, et al.
American Journal of Human Genetics|June 6, 2022
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 studyLisanne van Prooyen Schuurman, Erik A Sistermans, Diane Van Opstal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2018
Putting genome-wide sequencing in neonates into perspectivePleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, et al.
European Journal of Human Genetics : EJHG|February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantMio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
American Journal of Human Genetics|May 21, 2024
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivityTassja Kalm, Claudia Schob, Hanna Völler, et al.
Neurology|May 11, 2016
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathyJohannes R Lemke, Kirsten Geider, Katherine L Helbig, et al.
Annals of Neurology|October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypesMaureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.
Pageof 186