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European Journal of Human Genetics : EJHG|February 15, 2001
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopiaN Matsumoto, R J Leventer, J A Kuc, et al.Journal of Medical Genetics|November 26, 2008
The molecular landscape of ASPM mutations in primary microcephalyA K Nicholas, E A Swanson, J J Cox, et al.Clinical Genetics|May 11, 1975
Familial Kallmann syndrome with unilateral renal aplasiaJ D Wegenke, D T Uehling, J B Wear, et al.Human Molecular Genetics|December 15, 2000
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 geneC Cardoso, R J Leventer, N Matsumoto, et al.American Journal of Medical Genetics. Part A|November 18, 2008
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotypeT A Briggs, N I Wolf, S D'Arrigo, et al.Molecular Syndromology|November 1, 2012
Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 MicrodeletionsR N Traylor, W B Dobyns, J A Rosenfeld, et al.Neuron|January 12, 1999
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopiaJ W Fox, E D Lamperti, Y Z Ekşioğlu, et al.Human Genetics|January 1, 1981
The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical pictureA Schinzel, W Schmid, M Fraccaro, et al.American Journal of Human Genetics|August 27, 1998
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domainK Gaudenz, E Roessler, N Quaderi, et al.American Journal of Medical Genetics|January 1, 1981
Further delineation of the C (trigonocephaly) syndromeR M Antley, D S Hwang, W Theopold, et al.Pageof 40