Kolexia
Razavi Ferechte
Génétique médicale
Hôpital Necker Enfants Malades
Paris, France
82 Activités
129 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Malformations multiples Agénésie du corps calleux Microcéphalie Hydrocéphalie Malformations corticales Malformations du système nerveux Déficience intellectuelle Arthrogrypose Maladies foetales

Industries

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Dernières activités

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.
European journal of human genetics : EJHG   13 février 2024
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect
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
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Brain : a journal of neurology   03 mai 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
Author Correction: Failure of human rhombic lip differentiation underlies medulloblastoma formation.
Nature   22 décembre 2022
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Birth defects research   20 décembre 2022
Failure of human rhombic lip differentiation underlies medulloblastoma formation.
Nature   21 septembre 2022
EP23.06: Prenatal diagnosis of Fontaine progeroid syndrome with a de novo mutation in SLC25A24
Abstracts of the 32nd World Congress on Ultrasound in Obstetrics and Gynecology, 16–18 September 2022, London, UK \u0026amp; Virtual   14 septembre 2022
Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.
American journal of medical genetics. Part A   10 juin 2022