Showing results (1-10 of 9) with videos related to
Sort By:
Pageof 1
Molecular Cytogenetics|May 28, 2019
Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literatureJohn C Herriges, Sarah L Dugan, Allen N LambSeminars in Pediatric Neurology|July 3, 2018
Intracranial Calcifications in Young ChildrenSarah L Dugan, Lorenzo D Botto, Gary L Hedlund, et al.European Journal of Medical Genetics|May 14, 2018
De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorderWei Shen, Patti Krautscheid, Audrey M Rutz, et al.American Journal of Medical Genetics. Part A|October 23, 2018
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletionsSarah L Dugan, Emanuele Panza, Amanda Openshaw, et al.American Journal of Medical Genetics. Part A|April 23, 2015
New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapseSarah L Dugan, Renee T Temme, Rebecca A Olson, et al.American Journal of Medical Genetics. Part A|June 4, 2017
Neuroradiographic findings in 22q11.2 deletion syndromeLauren A Bohm, Tom C Zhou, Tyler J Mingo, et al.American Journal of Medical Genetics. Part A|September 4, 2015
7q11.23 Duplication syndrome: Physical characteristics and natural historyColleen A Morris, Carolyn B Mervis, Alex P Paciorkowski, et al.Annals of Neurology|August 21, 2016
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxiaKatherine L Helbig, Ulrike B S Hedrich, Deepali N Shinde, et al.American Journal of Human Genetics|January 15, 2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderRaphael Carapito, Ekaterina L Ivanova, Aurore Morlon, et al.Pageof 1