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3. Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome. (2nd March 2021)

4. EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome. (October 2022)

6. Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature. Issue 8 (22nd October 2018)

7. Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome. Issue 5 (11th April 2013)

10. Prenatal findings in oral‐facial‐digital syndrome type VI: Report of three cases and literature review. (2nd July 2019)