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Human Genetics|November 10, 2001
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) geneC Sergi, R Penzel, J Uhl, et al.Journal of the Neurological Sciences|January 1, 1997
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblingsE Hund, A Grau, W Fogel, et al.Human Genetics|November 1, 1986
Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduriaK Harzer, M Cantz, A C Sewell, et al.Pageof 7