Hôpital Chambéry - Centre Hospitalier de Chambéry - Hôpital Savoie
Hospital
Location:
Chambéry,
France (FR)
ISNI: 0000000406393482
ROR: https://ror.org/01r35jx22
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024)
Peron A, D’Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, et al.
Journal article
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice (2023)
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, et al.
Journal article
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019)
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, et al.
Journal article