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Developmental Medicine and Child Neurology|June 20, 2014
Callosal alterations in pyridoxine-dependent epilepsySeth D Friedman, Gisele E Ishak, Sandra L Poliachik, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 10, 2013
Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsisHannah M Tully, Jennifer C Dempsey, Gisele E Ishak, et al.
Human Mutation|June 23, 2015
KIAA0586 is Mutated in Joubert SyndromeRuxandra Bachmann-Gagescu, Ian G Phelps, Jennifer C Dempsey, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|July 3, 2013
Diffusion tensor imaging of the superior cerebellar peduncle identifies patients with posterior fossa syndromeJeffrey G Ojemann, Savannah C Partridge, Andrew V Poliakov, et al.
American Journal of Medical Genetics. Part A|July 12, 2019
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndromeJennifer N Dines, Yajuan J Liu, Whitney Neufeld-Kaiser, et al.
American Journal of Medical Genetics. Part A|September 12, 2012
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsisHannah M Tully, Jennifer C Dempsey, Gisele E Ishak, et al.
Human Molecular Genetics|July 2, 2015
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genesRenske Oegema, Thomas D Cushion, Ian G Phelps, et al.
Brain : a Journal of Neurology|February 28, 2015
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasiaLaura A Jansen, Ghayda M Mirzaa, Gisele E Ishak, et al.
Annals of Neurology|May 11, 2019
Glial injury in neurotoxicity after pediatric CD19-directed chimeric antigen receptor T cell therapyJuliane Gust, Olivia C Finney, Daniel Li, et al.
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