Showing results (51-60 of 67) with videos related to
Sort By:
Pageof 7
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.Journal of Medical Genetics|January 14, 2012
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizuresRuxandra Bachmann-Gagescu, Gisele E Ishak, Jennifer C Dempsey, et al.American Journal of Human Genetics|May 1, 2012
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disabilityMuzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, et al.American Journal of Human Genetics|April 5, 2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic EncephalopathyJessica X Chong, Viviana Caputo, Ian G Phelps, et al.American Journal of Human Genetics|December 17, 2009
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardationAsif Mir, Liana Kaufman, Abdul Noor, et al.American Journal of Human Genetics|May 15, 2012
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndromeDan Doherty, Albert E Chudley, Gail Coghlan, et al.American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.Pageof 7