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Chloé Angelini
Chloé Angelini
French Institute of Health and Medical Research
Biology
Epilepsy
Genetics
Genetic heterogeneity
Episodic ataxia
2
Papers
23
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Rare variants in the GABA A receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes
2020
Molecular Genetics & Genomic Medicine
Fenja Markus
Chloé Angelini
Aurélien Trimouille
G Rudolf
Gaetan Lesca
Cyril Goizet
Eulalie Lasseaux
Benoit Arveiler
Marjon van Slegtenhorst
Alice S. Brooks
Rami Abou Jamra
Georg Christoph Korenke
John Neidhardt
Marta Owczarek-Lipska
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Citations (2)
Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant
2018
European Journal of Medical Genetics
Chloé Angelini
Julien Van-Gils
Antoine Bigourdan
Pierre-Simon Jouk
Didier Lacombe
P. Menegon
Sébastien Moutton
Florence Riant
Guilhem Solé
Elisabeth Tournier-Lasserve
Aurélien Trimouille
Marie Vincent
Cyril Goizet
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Citations (21)
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