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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.Pediatrics|September 1, 1976
Immunologic reconstitution in severe combined immunodeficiency following transplantation with parental bone marrowR S Geha, A Malakian, G LeFranc, 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.Human Heredity|January 1, 1982
A study of genetic markers of the blood in four Central African population groupsJ Y le Gall, M le Gall, Y Godin, 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.Neurogenetics|August 9, 2008
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12E Chouery, J Kfoury, V Delague, 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.Pageof 5