Showing results (101-110 of 108) with videos related to
Sort By:
Pageof 11
You have reached the last page of results.This site can display upto 108 results.
European Journal of Pediatrics|January 25, 2002
Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndromeM A Willemsen, M A Lutt, P M Steijlen, et al.Annals of Neurology|October 1, 1992
Familial adult-onset muscular dystrophy with leukoencephalopathyB G van Engelen, Q H Leyten, P L Bernsen, et al.Neurology|May 5, 1999
Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patientsP H van Domburg, M A Willemsen, J J Rotteveel, et al.Nature Genetics|November 4, 2000
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat proteinC M Pusch, C Zeitz, O Brandau, et al.Neurology|September 22, 2010
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathyS B Wortmann, B H Kremer, A Graham, et al.American Journal of Human Genetics|June 5, 2001
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) geneA I den Hollander, J R Heckenlively, L I van den Born, et al.American Journal of Human Genetics|April 29, 1998
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneityJ Oh, L Ho, S Ala-Mello, et al.American Journal of Human Genetics|September 16, 1999
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypesS Annunen, J Körkkö, M Czarny, et al.Pageof 11