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Human Mutation|February 19, 2000
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genesW Wuyts, W Van HulHuman Mutation|February 19, 2000
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)B WirthHuman Mutation|February 19, 2000
High incidence of 550delA mutation of CAPN3 in LGMD2 patients from RussiaT V Pogoda, I N Krakhmaleva, N A Lipatova, et al.Human Mutation|February 19, 2000
IDDM7 links to insulin-dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate gene GALNT3. The Danish Study Group of Diabetes in Childhood and The Danish IDDM Epidemiology and Genetics GroupO P Kristiansen, F Pociot, E P Bennett, et al.Human Mutation|February 19, 2000
PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase geneT Sugawara, H Shimizu, N Hoshi, et al.Human Mutation|February 17, 2001
Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutationL M Allende, M A García-Pérez, A Moreno, et al.Human Mutation|August 3, 2000
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in FranceM Claustres, C Guittard, D Bozon, et al.Human Mutation|September 12, 2000
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpointsE Otto, R Betz, C Rensing, et al.Human Mutation|September 12, 2000
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndromeD Wang, P Kranz-Eble, D C De VivoHuman Mutation|September 12, 2000
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)E Schollen, L Dorland, T J de Koning, et al.Pageof 574