Kolexia
Rousseau Thierry Gynécologie
Rousseau Thierry
Gynécologie
Hôpital François Mitterrand
Dijon, France
42 Activités
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{{person.topmesh1.name}} Poids de naissance Malformations multiples Aberrations des chromosomes Hernies diaphragmatiques congénitales Hémorragie de la délivrance Syndrome de Down Malformations Hernie diaphragmatique Hernie

Collaborateurs

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Sagot Paul
Sagot Paul
Hôpital François Mitterrand, Dijon, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Thauvin-Robinet Christel
Thauvin-Robinet Christel
Hôpital François Mitterrand, Dijon, France
Marle Nathalie
Marle Nathalie
Hôpital François Mitterrand, Dijon, France

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Biocodex
1 collaboration(s)
Dernière en 2023
Norgine
1 collaboration(s)
Dernière en 2023
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Dernières activités

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ANAMETAB-PRO: Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops Fetalis by Massively Parallel Sequencing
Essai Clinique (Hospices Civils de Lyon)   19 mars 2024
Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
Prenatal diagnosis   11 février 2024
Uncertainty in prenatal molecular diagnosis : dual diagnosis in two fetuses as new challenges for further debate on reporting policies
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Frontiers in genetics   23 mars 2023
Fetal brain anomalies linked to MRPS22 mutations
Proceedings of the 124th Meeting of the British Neuropathological Society, 1–3 March 2023, London, UK   27 février 2023
Syndrome 48,XXYY et autres tétrasomies ou pentasomies des gonosomes chez le garçon
HAS Publications   10 octobre 2022
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
European journal of human genetics : EJHG   16 mai 2022
Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study.
American journal of obstetrics and gynecology   29 mai 2021
Factors associated with inadequate folic acid supplementation for the prevention of neural tube defects in eight Parisian maternity units.
Gynecologie, obstetrique, fertilite & senologie   09 janvier 2021
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.
American journal of medical genetics. Part C, Seminars in medical genetics   22 janvier 2020