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Brain : a Journal of Neurology|May 11, 2006
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutationsE Parrini, A Ramazzotti, W B Dobyns, et al.Nature Genetics|November 14, 1997
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22N A Quaderi, S Schweiger, K Gaudenz, et al.Journal of Medical Genetics|July 4, 2009
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)D Doherty, M A Parisi, L S Finn, et al.Human Molecular Genetics|April 1, 1997
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brainM E Ross, K M Allen, A K Srivastava, et al.AJNR. American Journal of Neuroradiology|August 17, 2023
Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different PrognosisC A P F Alves, J Sidpra, A Manteghinejad, et al.Annals of Neurology|February 16, 1999
Characterization of mutations in the gene doublecortin in patients with double cortex syndromeJ G Gleeson, S R Minnerath, J W Fox, et al.Nature Genetics|December 1, 1995
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2N H Robin, G J Feldman, A L Aronson, et al.Human Molecular Genetics|September 5, 2001
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in femalesV L Sheen, P H Dixon, J W Fox, et al.American Journal of Medical Genetics. Part A|February 1, 2017
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmusP Dunn, G P Prigatano, S Szelinger, et al.American Journal of Medical Genetics|October 26, 1999
Polytopic anomalies with agenesis of the lower vertebral columnA Bohring, S O Lewin, J F Reynolds, et al.Pageof 40