Kolexia
Cavallin Mara Pédiatrie
Cavallin Mara
Pédiatrie
Hôpital Necker Enfants Malades
Paris, France
31 Activités
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Scientifique
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Sujets de recherche
{{person.topmesh1.name}} Microcéphalie Polymicrogyrie Lissencéphalie Lissencéphalies classiques et hétérotopies laminaires sous-corticales Malformations multiples Syndrome d'Aicardi Malformations corticales Déficience intellectuelle Épilepsie

Collaborateurs

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Bahi Nadia
Bahi Nadia
Hôpital Necker Enfants Malades, Paris, France
Boddaert Nathalie
Boddaert Nathalie
Hôpital Necker Enfants Malades, Paris, France
Philbert Marion
Philbert Marion
Centre Hospitalier de Antibes, Antibes, France
Sahel Jose-Alain
Sahel Jose-Alain
Hôpital Quinze-Vingts , Paris, France

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Dernières activités

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GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders.
Orphanet journal of rare diseases   21 mars 2023
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic Mutations Always a Unilateral Disorder?
Neurology. Genetics   08 décembre 2020
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.
Neurology   04 décembre 2020
Loss of function of RIMS2, a synaptic membrane exocytosis gene, causes a new phenotype characterized by congenital cone-rod synaptic disease associated with neurodevelopmental and pancreatic involvement
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
of function of RIMS2 , a synaptic membrane exocytosis gene, causes a new phenotype characterized by congenital cone-rod synaptic disease associated with neurodevelopmental and pancreatic involvement
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Hypersensitivity to Rituximab in Children.
Pharmacology   17 novembre 2020
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
American journal of human genetics   03 octobre 2020
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
American journal of human genetics   28 mai 2020
Delineating syndrome: From congenital microcephaly to hyperkinetic encephalopathy.
Neurology. Genetics   07 novembre 2018
Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.
European journal of medical genetics   01 novembre 2018