Kolexia
Leporrier Nathalie
Génétique médicale
CHU Caen
Caen, France
23 Activités
0 Followers

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{{person.topmesh1.name}} Aberrations des chromosomes Délétion de segment de chromosome Déficience intellectuelle Maladies chromosomiques Leucémies Leucémie chronique lymphocytaire à cellules B Leucémie lymphoïde Trisomie Avortement spontané

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Dernières activités

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
Journal of medical genetics   19 février 2018
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Prenatal diagnosis   10 mai 2016
Prenatal diagnosis of Aicardi-Goutières syndrome: a sonographic mimicry of cytomegalovirus fetopathy.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine   15 septembre 2015
Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center.
Journal of clinical ultrasound : JCU   14 juillet 2015
Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.
Prenatal diagnosis   22 juillet 2014
Pai syndrome: challenging prenatal diagnosis and management.
Pediatric radiology   20 avril 2014
Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes.
Molecular genetics and metabolism   31 mars 2014
Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.
Clinical case reports   06 février 2014
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.
European journal of medical genetics   15 août 2013
De novo 15q13.3 microdeletion with cryptogenic West syndrome.
American journal of medical genetics. Part A   08 août 2013