Kolexia
Philizot-Lohmann Laurence Biologie médicale
Philizot-Lohmann Laurence
Biologie médicale
Lbm Selafa Cerba Site Frepillon
Saint-Ouen-l'Aumône, France
25 Activités
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Sujets de recherche
{{person.topmesh1.name}} Trisomie Syndrome de Down Syndrome de Patau Aneuploïdie Syndrome d'Edwards Lupus érythémateux disséminé Maladies auto-immunes Déficience intellectuelle Aberrations des chromosomes

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Kleinfinger Pascale
Kleinfinger Pascale
Lbm Selafa Cerba Site Frepillon, Saint-Ouen-l'Aumône, France
Costa Jean-Marc
Costa Jean-Marc
Lbm Selafa Cerba Site Frepillon, Saint-Ouen-l'Aumône, France
Benachi Alexandra
Benachi Alexandra
Hôpital Antoine-Béclère, Clamart, France
Letourneau Alexandra
Letourneau Alexandra
Hôpital Antoine-Béclère, Clamart, France

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Dernières activités

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Performance of cell-free DNA testing for common fetal trisomies in triplet pregnancies.
Prenatal diagnosis   06 mars 2024
Monochorionic twins with discordant trisomy 21, another case to remind this uncommon condition and how to deal with.
Journal of gynecology obstetrics and human reproduction   08 juin 2023
Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
Genes   03 novembre 2022
Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.
Frontiers in genetics   26 septembre 2022
Pregnancy loss and Exome sequencing analysis (WES)
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Accuracy of first-trimester cell-free DNA screening for trisomy 21 in twin pregnancy.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology   14 décembre 2021
novo microdeletions at 6q14.1 encompassing the PHIP gene in two girls with developmental delay, intellectual disability, behavioral problems obesity, and dysmorphic features
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Exome Sequencing in 53 fetuses with abnormal ultrasound: 37% of diagnostic yield
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.
Journal of clinical medicine   01 août 2020