Résultat de recherche

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

Vincent Cantagrel

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Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Valérie Malan

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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.

Patrick Nitschké, Karine Siquier

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Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

Lydie Burglen

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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Edor Kabashi

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Anatomical and functional abnormalities on MRI in kabuki syndrome.

Nathalie Boddaert, Stanislas Lyonnet, Marlène Rio, Monica Zilbovicius , Jennifer Boisgontier, Jean-Marc Tacchella, Hervé Lemaître, Ana Saitovitch, Elza Rechtman, Ludovic Fillon

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Posterior Fossa Arachnoid Cyst in a Pediatric Population is Associated with Social Perception and Rest Cerebral Blood Flow Abnormalities.

Monica Zilbovicius , Nathalie Boddaert, Ana Saitovitch, Elza Rechtman, Hervé Lemaître, Ludovic Fillon, Jean-Marc Tacchella, Jennifer Boisgontier

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Central nervous system complications in adult cystinosis patients.

Nathalie Boddaert, Ana Saitovitch, Corinne Antignac, Jennifer Boisgontier, Hervé Lemaître

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Tuning Eye-Gaze Perception by Transitory STS Inhibition.

Monica Zilbovicius , Monica Zilbovicius , Ana Saitovitch, Hervé Lemaître, Elza Rechtman, Nathalie Boddaert

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