Kolexia
Costa Jean-Marc Pharmacien
Costa Jean-Marc
Pharmacien
Lbm Selafa Cerba Site Frepillon
Saint-Ouen-l'Aumône, France
43 Activités
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{{person.topmesh1.name}} Syndrome de Down Trisomie Syndrome de Patau Syndrome d'Edwards Maladies chromosomiques Aneuploïdie Déficience intellectuelle Lupus érythémateux disséminé Maladies auto-immunes

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Benachi Alexandra
Benachi Alexandra
Hôpital Antoine-Béclère, Clamart, France
Kleinfinger Pascale
Kleinfinger Pascale
Lbm Selafa Cerba Site Frepillon, Saint-Ouen-l'Aumône, France
Philizot-Lohmann Laurence
Philizot-Lohmann Laurence
Lbm Selafa Cerba Site Frepillon, Saint-Ouen-l'Aumône, France
Letourneau Alexandra
Letourneau Alexandra
Hôpital Antoine-Béclère, Clamart, France

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AGILENT TECHNOLOGIES FRANCE
1 collaboration(s)
Dernière en 2017
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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
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Neurology   19 avril 2023
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
European journal of human genetics : EJHG   01 décembre 2022
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
Digging exome sequencing data: An example of a homozygous mobile element insertion detected in a rare disease cohort
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Systematic and automated genotype-phenotype associations reassessment through ClinVar follow-up
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Genetics in medicine : official journal of the American College of Medical Genetics   17 mars 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