Kolexia
Attie-Bitach Tania Génétique médicale
Attie-Bitach Tania
Génétique médicale
Hôpital Necker Enfants Malades
Paris, France
216 Activités
19 Followers
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{{person.topmesh1.name}} Malformations multiples Ciliopathies Agénésie du corps calleux Polydactylie Maladies kystiques rénales Syndromes oro-facio-digitaux Déficience intellectuelle Prédisposition génétique à une maladie Microcéphalie

Collaborateurs

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Razavi Ferechte
Razavi Ferechte
Hôpital Necker Enfants Malades, Paris, France
Bessieres Bettina
Bessieres Bettina
Hôpital Necker Enfants Malades, Paris, France
Vekemans Michel
Vekemans Michel
Hôpital Necker Enfants Malades, Paris, France
Martinovic Jelena
Martinovic Jelena
Hôpital Antoine-Béclère, Clamart, France

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Dernières activités

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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
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Scientific reports   28 janvier 2024
Loss of function variants in ZEB1 cause dominant agenesis of the corpus callosum with incomplete penetrance
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Prenatal exome sequencing in corpus callosum anomalies: lessons from a cohort of 209 fetuses
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Syntelencephaly (Middle interhemispheric variant): an holoprosencephaly (HPE) like the others?
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Two new cases with HMGB1 loss-of-function variants
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a novel neurodevelopmental syndrome associated with altered phosphoinositide signaling
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
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
The evolving challenges of congenital titinopathies: late miscarriages, syndromic phenotypes, and “false” canonical exons
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Variability between Jeune Asphyxiating Thoracic Dystrophy and Short-Rib Polydactyly Type III linked to DYNC2H1: Phenotypic, Genotypic Review and searching for a Modifier Gene
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024