Zahra Esmaeilizadeh
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View article: Clinical Features and Genetic Characteristics of <scp>XLID</scp> Patients With <scp><i>KDM5C</i></scp> Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant
Clinical Features and Genetic Characteristics of <span>XLID</span> Patients With <span><i>KDM5C</i></span> Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant Open
Background X‐linked intellectual disability (XLID) is a genetically heterogeneous disorder that results in cognitive impairment and developmental delays. Mutations in the KDM5C gene have been identified as a causative factor in XLID. This …
View article: Additional file 1 of Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients
Additional file 1 of Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients Open
Additional file 1. Clinical and molecular data related to epileptic patients with CACNA1A pathogenic variants.