A dynamic study in two new cases of X chromosome translocations MG Mattei, JF Mattei, S Ayme, G Malpuech, F Giraud Human Genetics 41, 251-257, 1978 | 41 | 1978 |
A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome. B Gilbert-Dussardier, D Bonneau, N Gigarel, M Le Merrer, D Bonnet, ... American journal of human genetics 56 (2), 542, 1995 | 42 | 1995 |
A taxonomic approach to the del (4p) phenotype M Preus, S Ayme, P Kaplan, M Vekemans, JM Opitz, JF Reynolds American journal of medical genetics 21 (2), 337-345, 1985 | 31 | 1985 |
Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents. S Ayme, MG Mattei, JF Mattei, F Giraud Human Genetics 48 (1), 7-12, 1979 | 38 | 1979 |
Adoption and fostering of babies with Down syndrome: a cohort of 593 cases AC Dumaret, C De Vigan, C Julian‐Reynier, J Goujard, D Rosset, S Aymé Prenatal Diagnosis: Published in Affiliation With the International Society …, 1998 | 16 | 1998 |
Analyse coût-bénéfice du diagnostic prénatal des anomalies chromosomiques par amniocentèse JP MOATTI, C Le Gales, C Julian, JL Lanoe, S Aymé Revue d'épidémiologie et de santé publique 38 (4), 309-321, 1990 | 14 | 1990 |
Attitudes of women of childbearing age towards prenatal diagnosis in southeastern France C Julian‐Reynier, G Macquart‐Moulin, JP Moatti, A Loundou, Y Aurran, ... Prenatal Diagnosis 13 (7), 613-627, 1993 | 49 | 1993 |
Attitudes towards Down's syndrome: follow up of a cohort of 280 cases. C Julian-Reynier, Y Aurran, A Dumaret, A Maron, F Chabal, F Giraud, ... Journal of medical genetics 32 (8), 597-599, 1995 | 53 | 1995 |
Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome? FC Fraser, S Aymé, F Halal, J Sproule, JM Opitz American journal of medical genetics 14 (3), 473-478, 1983 | 51 | 1983 |
Bridging the gap between molecular genetics and metabolic medicine: access to genetic information S Aymé European Journal of Pediatrics 159, S183-S185, 2000 | 17 | 2000 |
CEMARA an information system for rare diseases P Landais, C Messiaen, A Rath, L Le Mignot, E Dufour, M Ben Said, ... MEDINFO 2010, 481-485, 2010 | 40 | 2010 |
CEMARA: a Web dynamic application within a N-tier architecture for rare diseases. C Messiaen, L Le Mignot, A Rath, JB Richard, E Dufour, MB Said, JP Jaïs, ... Studies in health technology and informatics 136, 51, 2008 | 31 | 2008 |
Cerebrofaciothoracic dysplasia: a new family. N Philip, A Guala, A Moncla, M Monlouis, S Aymé, F Giraud Journal of medical genetics 29 (7), 497, 1992 | 16 | 1992 |
Chromosomal findings in chorionic villi: a collaborative study M Mikkelsen Human Genetics: Proceedings of the 7th International Congress of Human …, 1986 | 70 | 1986 |
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy S Sacconi, E Trevisson, L Salviati, S Aymé, O Rigal, AG Redondo, ... Neuromuscular Disorders 20 (1), 44-48, 2010 | 122 | 2010 |
Congenital malformations and maternal occupational exposure to glycol ethers S Cordier, A Bergeret, J Goujard, MC Ha, S Aymé, F Bianchi, E Calzolari, ... Epidemiology 8 (4), 355-363, 1997 | 180 | 1997 |
Constitutional chromosomal breakage F Giraud, S Ayme, JF Mattei, MG Mattei Human Genetics 34 (2), 125-136, 1976 | 185 | 1976 |
Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective B Godard, J Schmidtke, JJ Cassiman, S Aymé European Journal of Human Genetics 11 (2), S88-S122, 2003 | 257 | 2003 |
Data storage and DNA banking for biomedical research: technical, social and ethical issues S Ayme European Journal of Human Genetics 11 (12), 906-908, 2003 | 76 | 2003 |
Dermatoglyphics in parents of children with trisomy 21: Evaluation of their interest in genetic counselling S Ayme, MG Mattei, JF Mattei, Y Aurran, F Giraud Clinical Genetics 15 (1), 78-84, 1979 | 21 | 1979 |