Simona Baldassari

发表论文 45 篇 · 总被引 932 次 · h-index 15

代表论文

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study (2021 · Cancers · 被引 50)
Epilepsy Course and Developmental Trajectories in STXBP1-DEE (2022 · Neurology: Genetics · 被引 34)
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development (2022 · Cerebellum · 被引 18)
CFTR Rescue by Lumacaftor (VX-809) Induces an Extensive Reorganization of Mitochondria in the Cystic Fibrosis Bronchial Epithelium (2022 · Cells · 被引 14)
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation (2024 · Nature Communications · 被引 13)
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy (2021 · Neurology · 被引 12)