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Epilepsia|May 20, 2014
Epilepsy and outcome in FOXG1-related disordersLaurie E Seltzer, Mandy Ma, Sohnee Ahmed, et al.American Journal of Medical Genetics. Part A|August 5, 2011
The microcephaly-capillary malformation syndromeGhayda M Mirzaa, Alex R Paciorkowski, Christopher D Smyser, et al.Child Neurology Open|October 21, 2017
CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the LiteratureTina Hsu, Carrie C Coughlin, Kristin G Monaghan, et al.Gait & Posture|July 10, 2012
Balance impairment in individuals with Wolfram syndromeKristen A Pickett, Ryan P Duncan, Alex R Paciorkowski, et al.European Journal of Human Genetics : EJHG|December 15, 2016
Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphologyChristoph Pröschel, Jeanne N Hansen, Adil Ali, et al.Human Genetics|April 22, 2014
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismGhayda M Mirzaa, Benjamin Vitre, Gillian Carpenter, et al.Journal of Inherited Metabolic Disease|August 28, 2021
A diagnostic confidence scheme for CLN3 diseaseMargaux C Masten, Camille Corre, Alex R Paciorkowski, et al.Plos One|July 14, 2012
Early brain vulnerability in Wolfram syndromeTamara Hershey, Heather M Lugar, Joshua S Shimony, et al.European Journal of Human Genetics : EJHG|September 19, 2013
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformationAlex R Paciorkowski, Judy Weisenberg, Joshua B Kelley, et al.Pageof 157