Kolexia
Bonnière-Darcy Maryse
Anatomie et cytologie
Hôpital Necker Enfants Malades
Paris, France
33 Activités
0 Followers

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{{person.topmesh1.name}} Malformations multiples Agénésie du corps calleux Hydrocéphalie Microcéphalie Prédisposition génétique à une maladie Syndromes oro-facio-digitaux Délétion de segment de chromosome Malformation d'Arnold-Chiari Malformations oculaires

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Dernières activités

Morphological and genetic causes of fetal cardiomyopathies.
Clinical genetics   20 mai 2023
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Genetics in medicine : official journal of the American College of Medical Genetics   21 octobre 2020
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Clinical genetics   04 août 2020
Severe and progressive neuronal loss in myelomeningocele begins before 16 weeks of pregnancy.
American journal of obstetrics and gynecology   10 avril 2020
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Human mutation   06 avril 2020
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.
American journal of medical genetics. Part A   13 février 2020
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
American journal of medical genetics. Part A   20 mai 2019
Amniotic bands and associated polymicrogyria: In favor of a unique ischemic cause.
European journal of obstetrics, gynecology, and reproductive biology   20 mars 2019
A neuropathological and neurobiological study of brain malformations observed in fetuses infected by the Zika virus
Abstracts of the XIX International Congress of Neuropathology, Tokyo, Japan, September 23‐27, 2018   27 février 2019
Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
American journal of medical genetics. Part A   14 février 2019