Showing results (21-30 of 2,098) with videos related to
Sort By:
Pageof 210
Brain & Development|January 24, 1998
Early-onset facioscapulohumeral muscular dystrophy: two case reportsA Okinaga, T Matsuoka, J Umeda, et al.Journal of the Neurological Sciences|July 17, 1998
A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-upI Mohri, M Taniike, H Fujimura, et al.Journal of Child Neurology|December 11, 1999
Interstitial deletion of 14q, 46, XY, del (14) (q24.3q32.1) associated with status nonepileptic myoclonia and delayed myelinationJ Ono, H Kurahashi, T Okinaga, et al.Clinical Genetics|April 1, 1988
A family with pseudodeficiency of acid alpha-glucosidaseJ Nishimoto, K Inui, S Okada, et al.Biochemical and Biophysical Research Communications|December 15, 1992
Structure of serum transferrin in carbohydrate-deficient glycoprotein syndromeY Wada, A Nishikawa, N Okamoto, et al.Clinical Genetics|March 1, 1993
Different clinical features in monozygotic twins: a case of 7q--syndromeH Tsukamoto, K Inui, M Taniike, et al.Journal of Biochemistry|September 1, 1994
Purification and characterization of galactocerebrosidase from human lymphocytesN Sakai, K Inui, M Midorikawa, et al.Journal of Neurochemistry|November 1, 1990
Lysosulfatide (sulfogalactosylsphingosine) accumulation in tissues from patients with metachromatic leukodystrophyK Toda, T Kobayashi, I Goto, et al.The Journal of Pediatrics|January 1, 1992
Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) geneK Inui, H Fukushima, H Tsukamoto, et al.The Journal of Pediatrics|January 10, 2001
A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsulesK Inui, K Yanagihara, K Otani, et al.Pageof 210