Showing results (2961-2970 of 5,826) with videos related to

Sort By:
Pageof 583
Human Mutation|October 23, 2001
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descentJ Wang, E Huff, L Janecka, et al.
Human Mutation|October 23, 2001
Mutations in BTD causing biotinidase deficiencyJ Hymes, C M Stanley, B Wolf
Human Mutation|October 23, 2001
Structural and functional analysis of a new desmin variant causing desmin-related myopathyB Goudeau, A Dagvadorj, F Rodrigues-Lima, et al.
Human Mutation|October 23, 2001
Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4)A A Abed, K Günther, C Kraus, et al.
Human Mutation|October 23, 2001
Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patientsJ D Hamlington, C Jones, I McIntosh
Human Mutation|October 23, 2001
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi JewsI Lerer, M Sagi, Z Ben-Neriah, et al.
Human Mutation|January 1, 1992
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the diseaseM J Edwards, R J Wenstrup, P H Byers, et al.
Human Mutation|January 1, 1992
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotypeH S Scott, T Litjens, J J Hopwood, et al.
Human Mutation|January 1, 1992
A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotypeS Murru, D Poddie, G V Sciarratta, et al.
Human Mutation|January 1, 1992
Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha geneH H Dahl, G K Brown, R M Brown, et al.
Pageof 583