Showing results (5011-5020 of 5,829) with videos related to
Sort By:
Pageof 583
Human Mutation|April 1, 1998
Novel mutations in the TIGR gene in early and late onset open angle glaucomaF C Mansergh, P F Kenna, C Ayuso, et al.Human Mutation|April 1, 1998
Snapback SSCP analysis: engineered conformation changes for the rapid typing of known mutationsS D Wilton, K Honeyman, S Fletcher, et al.Human Mutation|June 20, 1998
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countriesA J Bergman, I E van den Berg, W Brink, et al.Human Mutation|June 20, 1998
Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutationC Kubisch, E M Wicklein, T J JentschHuman Mutation|June 20, 1998
Mutations of the cationic trypsinogen in hereditary pancreatitisN Teich, J Mössner, V KeimHuman Mutation|June 20, 1998
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individualsS Ries, C Büchler, G Schindler, et al.Human Mutation|May 6, 2015
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase ParkinFabienne C Fiesel, Thomas R Caulfield, Elisabeth L Moussaud-Lamodière, et al.Human Mutation|January 1, 1997
Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybridsL D McDaniel, R Legerski, A R Lehmann, et al.Human Mutation|January 1, 1997
APC mutations in familial adenomatous polyposis families in the Northwest of EnglandJ G Armstrong, D R Davies, S P Guy, et al.Human Mutation|January 1, 1997
SSCP analysis of long DNA fragments in low pH gelY Kukita, T Tahira, S S Sommer, et al.Pageof 583