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segolene ayme
segolene ayme
Directrice de recherche émérite à l'INSERM
在 inserm.fr 的电子邮件经过验证
标题
引用次数
年份
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
411978
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
421995
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
311985
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
381979
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
161998
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
141990
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
491993
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
531995
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
511983
Bridging the gap between molecular genetics and metabolic medicine: access to genetic information
S Aymé
European Journal of Pediatrics 159, S183-S185, 2000
172000
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
402010
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
312008
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
161992
Chromosomal findings in chorionic villi: a collaborative study
M Mikkelsen
Human Genetics: Proceedings of the 7th International Congress of Human …, 1986
701986
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
1222010
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
1801997
Constitutional chromosomal breakage
F Giraud, S Ayme, JF Mattei, MG Mattei
Human Genetics 34 (2), 125-136, 1976
1851976
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
2572003
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
762003
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
211979
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