Navigation Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 par Auteur "VAN-GILS, Julien"
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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
SCHALK, Audrey; COUSIN, Margot A; DSOUZA, Nikita R ...Document de travail - Pré-publicationLibre accès -
Clinical description and mutational profile of a moroccan series of patients with rubinstein taybi syndrome
CHAFAI ELALAOUI, Siham; SMAILI, Wiam; VAN-GILS, Julien ...(African Health Sciences. vol. 21, n° 2, pp. 960-967, 2021-08-02)Article de revueLibre accès -
Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.
LACOMBE, Didier; VAN-GILS, Julien; LEBRUN, Marine ...(Brain and Development. vol. 44, n° 8, pp. 567-570, 2022-09-01)Article de revue -
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
MICELI, Francesco; MILLEVERT, Charissa; SOLDOVIERI, Maria Virginia ...(EBioMedicine. vol. 81, pp. 104130, 2022-07-01)Article de revueLibre accès -
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
LACOMBE, Didier; BLOCH-ZUPAN, Agnès; BREDRUP, Cecilie ...(Journal of Medical Genetics. vol. 61, n° 6, pp. 503-519, 2024-05-21)Article de revueLibre accès -
Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1
PRUDHOMME, L.; DELLECI, Claire; TRIMOUILLE, Aurelien ...(European Journal of Medical Genetics. vol. 63, n° 4, pp. 103815, 2020)Article de revue -
A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages
ADRIEN, Jean-Louis; TAUPIAC, Emmanuelle; THIEBAUT, Eric ...(Research in Developmental Disabilities. vol. 116, pp. 104029, 2021-07-13)Article de revue