Kolexia
Martinovic Jelena Génétique médicale
Martinovic Jelena
Génétique médicale
Hôpital Antoine-Béclère
Clamart, France
120 Activités
41 Followers
Scientifique
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Sujets de recherche
{{person.topmesh1.name}} Malformations multiples Prédisposition génétique à une maladie Microcéphalie Maladies du rein Malformations Hernie diaphragmatique Hernie Hydrocéphalie Hernies diaphragmatiques congénitales

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Attie-Bitach Tania
Attie-Bitach Tania
Hôpital Necker Enfants Malades, Paris, France
Benachi Alexandra
Benachi Alexandra
Hôpital Antoine-Béclère, Clamart, France
Razavi Ferechte
Razavi Ferechte
Hôpital Necker Enfants Malades, Paris, France
Regnault-Gonzales Marie
Regnault-Gonzales Marie
Hôpital Necker Enfants Malades, Paris, France

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Dernières activités

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Intriguing link between fetal intracranial hemorrhage and X-linked recessive chondrodysplasia punctata.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology   05 janvier 2024
Role of RBP4 in eye development: 7 novel families with ocular malformations and literature review
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Bi-allelic variations in CRB2, encoding the Crumbs Cell Polarity Complex Component 2, lead to non-communicating hydrocephalus due to atresia of the Aqueduct of Sylvius and central canal of the medulla
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
Human molecular genetics   11 septembre 2023
Clinical, genetic and biochemical signatures of -related ocular malformations.
Journal of medical genetics   16 août 2023
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genetics in medicine : official journal of the American College of Medical Genetics   05 mars 2023
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Acta neuropathologica communications   20 février 2023
P-120 | Prenatal and postnatal phenotypes of Coffin-Siris syndrome: Two very different sides of the same coin
Abstracts of the ISPD 26th International Conference on Prenatal Diagnosis and Therapy, 19–23 June 2022   03 janvier 2023
Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.
Prenatal diagnosis   26 novembre 2022
Management of copy number variants associated with incomplete penetrance and variable expressivity-Results of a French survey.
Clinical genetics   09 novembre 2022