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Clinical Genetics|June 18, 1998
The intermediate alleles of the fragile X CGG repeat in patients with mental retardationE Mornet, C Chateau, B Simon-Bouy, et al.Revue D'Epidemiologie Et De Sante Publique|July 24, 2003
[Towards an improved antenatal screening for cystic fibrosis]J-L Serre, J Feingold, B Simon-Bouy, et al.Human Genetics|April 1, 1996
Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndromeE Mornet, C Chateau, A Taillandier, et al.European Journal of Human Genetics : EJHG|January 1, 1993
General cystic fibrosis mutations are usually missense mutations affecting two specific protein domains and associated with a specific RFLP marker haplotypeJ L Serre, E Mornet, B Simon-Bouy, et al.Clinical Genetics|September 1, 1991
Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patientsB Simon-Bouy, E Mornet, J L Serre, et al.Human Genetics|September 1, 1990
The cystic fibrosis delta F508 mutation in the French populationB Simon-Bouy, E Mornet, J L Serre, et al.Clinical Genetics|April 1, 1991
The delta F508 mutation in mild adult forms of cystic fibrosis (CF)B Simon-Bouy, E Mornet, A Taillandier, et al.Genomics|December 1, 1991
Nearly 80% of cystic fibrosis heterozygotes and 64% of couples at risk may be detected through a unique screening of four mutations by ASO reverse dot blotJ L Serre, A Taillandier, E Mornet, et al.American Journal of Medical Genetics|July 13, 2002
Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective casesF Muller, B Simon-Bouy, E Girodon, et al.Human Molecular Genetics|May 20, 1999
Correlations of genotype and phenotype in hypophosphatasiaL Zurutuza, F Muller, J F Gibrat, et al.Pageof 8