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Human Genetics|September 1, 1990
Genotyping of the Spanish cystic fibrosis population at the delta F508 mutation site and RFLP linked lociB Jaume-Roig, B Simon-Bouy, A Taillandier, et al.Human Genetics|October 28, 1997
Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defectsE Mornet, F Muller, A Lenvoisé-Furet, et al.Human Mutation|January 1, 1995
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiencyB Barbat, A Bogyo, M C Raux-Demay, et al.Human Genetics|March 15, 2008
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type proteinA S Lia-Baldini, I Brun-Heath, C Carrion, et al.Clinical Genetics|October 10, 2007
A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL geneI Brun-Heath, E Chabrol, M Fox, et al.Human Genetics|April 1, 1990
Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations geneticsJ L Serre, B Simon-Bouy, E Mornet, et al.American Journal of Human Genetics|February 1, 1993
Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomesC Oudet, E Mornet, J L Serre, et al.Human Genetics|March 17, 1978
Common and uncommon immunoglobulin haplotypes among Lebanese communitiesG Lefranc, L Rivat, J L Serre, et al.European Journal of Human Genetics : EJHG|January 1, 1994
Transition from normal to premutated alleles in fragile X syndrome results from a multistep processM Montagnon, A Bogyo, C Deluchat, et al.Journal of Medical Genetics|August 27, 1998
Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index caseF Muller, M Dommergues, B Simon-Bouy, et al.Pageof 5