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American Journal of Medical Genetics|October 1, 1984
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathologyC B Whitley, L O Langer, J Ophoven, et al.Journal of Medical Genetics|September 13, 2005
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndromeM A Parisi, D Doherty, M L Eckert, et al.Neuropediatrics|December 7, 2007
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new caseL Garavelli, E Guareschi, S Errico, et al.Neurology|August 1, 1996
X-linked malformations of neuronal migrationW B Dobyns, E Andermann, F Andermann, et al.American Journal of Medical Genetics|July 31, 2001
Meier-Gorlin syndrome: report of eight additional cases and reviewE M Bongers, J M Opitz, A Fryer, et al.The Journal of Pediatrics|March 1, 1984
Apnea and sudden unexpected death in infants with achondroplasiaR M Pauli, C I Scott, E R Wassman, et al.Neurology|January 26, 2011
Distinguishing 3 classes of corpus callosal abnormalities in consanguineous familiesR M Hanna, S E Marsh, D Swistun, et al.AJNR. American Journal of Neuroradiology|September 22, 2022
Refining the Neuroimaging Definition of the Dandy-Walker PhenotypeM T Whitehead, M J Barkovich, J Sidpra, et al.Molecular Syndromology|October 30, 2010
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1AR Oegema, A de Klein, A J Verkerk, et al.Annals of Neurology|July 14, 2000
Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopmentM M Guerreiro, E Andermann, R Guerrini, et al.Pageof 40