Showing results (1061-1070 of 5,815) with videos related to
Sort By:
Pageof 582
Human Mutation|January 1, 1997
Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studiesL Assouline, E Leitersdorf, M Lambert, et al.Human Mutation|January 1, 1997
Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: analysis with a CMT1A-REP repeat probe and photostimulated luminescence imagingT Ikegami, H Ikeda, P F Chance, et al.Human Mutation|January 1, 1994
Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rateM L Bisgaard, K Fenger, S Bülow, et al.Human Mutation|January 1, 1994
Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy familyS D Wilton, D C Chandler, B A Kakulas, et al.Human Mutation|October 31, 2009
Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effectSonia Garritano, Federica Gemignani, Edenir Inez Palmero, et al.Human Mutation|October 31, 2009
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levelsCeline Huber, Mélanie Fradin, Thomas Edouard, et al.Human Mutation|November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndromeV Laugel, C Dalloz, M Durand, et al.Human Mutation|November 11, 2005
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotypeLisa C Worgan, Kirsten Niles, Jamie C Tirone, et al.Human Mutation|October 27, 2005
Update of the molecular basis of familial hypercholesterolemia in The NetherlandsSigrid W Fouchier, John J P Kastelein, Joep C DefescheHuman Mutation|December 3, 2009
MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assaySara Molatore, Maria Teresa Russo, Vito G D'Agostino, et al.Pageof 582