Kolexia
Devisme Louise
Anatomie et cytologie
Centre Hospitalier de Lille
Lille, France
62 Activités
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Scientifique
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{{person.topmesh1.name}} Malformations multiples Tumeurs de l'utérus Maladie trophoblastique gestationnelle Mort foetale Tumeurs trophoblastiques Maladies du placenta Cardiopathies congénitales Hydrocéphalie Syndrome de Bardet-Biedl

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Dernières activités

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
American journal of human genetics   25 septembre 2023
Embriología de las vías aéreas superiores
EMC - Otorrinolaringología   01 août 2023
Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology   05 décembre 2022
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney international   26 février 2022
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
Prenatal diagnosis   20 février 2022
The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
Clinical genetics   13 juillet 2021
syndrome: clinical and molecular characterization of a cohort of 26 patients and description of novel non-coding variants of RBM8A
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Association of Chorioamnionitis with Cerebral Palsy at Two Years after Spontaneous Very Preterm Birth: The EPIPAGE-2 Cohort Study.
The Journal of pediatrics   25 novembre 2020
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Clinical genetics   03 août 2020
Risk factors for spontaneous hematoma of the umbilical cord: A case-control study.
Placenta   24 juillet 2020