Showing results (161-170 of 176) with videos related to

Sort By:
Pageof 18
American Journal of Medical Genetics. Part A|July 24, 2012
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeJudith Allanson, Amanda Smith, Heather Hare, et al.
Human Genetics|August 10, 2006
Clinical and molecular genetic features of ARC syndromePaul Gissen, Louise Tee, Colin A Johnson, et al.
Journal of Medical Genetics|August 10, 2014
The clinical significance of small copy number variants in neurodevelopmental disordersReza Asadollahi, Beatrice Oneda, Pascal Joset, et al.
Epilepsia|February 7, 2017
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new casesJoseph D Symonds, Shelagh Joss, Kay A Metcalfe, et al.
Brain : a Journal of Neurology|February 9, 2022
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphologySiddharth Banka, Abigail Bennington, Martin J Baker, et al.
American Journal of Medical Genetics. Part A|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.
Nature Ecology & Evolution|November 1, 2017
Genome expansion and lineage-specific genetic innovations in the forest pathogenic fungi ArmillariaGyörgy Sipos, Arun N Prasanna, Mathias C Walter, et al.
Nature Ecology & Evolution|February 11, 2018
Author Correction: Genome expansion and lineage-specific genetic innovations in the forest pathogenic fungi ArmillariaGyörgy Sipos, Arun N Prasanna, Mathias C Walter, et al.
Nature Methods|December 22, 2023
The Cousa objective: a long-working distance air objective for multiphoton imaging in vivoChe-Hang Yu, Yiyi Yu, Liam M Adsit, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 22, 2022
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndromeFrancis Ramond, Caroline Dalgliesh, Mona Grimmel, et al.
Pageof 18