EA
Engy A. Ashaat

Publications (13)

Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants
Article scientifique · 2025
Molecular characterization of imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients
Article scientifique · 2025
Mapping autism in Egypt: population-based insights into prevalence, risk determinants, and severity among children aged 1–12 years
Article scientifique · 2025
Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features
Article scientifique · 2024
Integrating TREC/KREC assay and some cytokines in the evaluation of the immune status of patients with DiGeorge Syndrome
Article scientifique · 2024
Screening and determinant of suspected developmental delays among Egyptian preschool-aged children: a cross-sectional national community-based study
Article scientifique · 2023
National screening for developmental delays and their determinants among Egyptian school age children: A step towards implementing life skills programs
Article scientifique · 2023
Prevalence and risk factors of disabilities among Egyptian preschool children: a community-based population study
Article scientifique · 2023
National screening for Egyptian children aged 1 year up to 12 years at high risk of Autism and its determinants: a step for determining what ASD surveillance needs
Article scientifique · 2023
Whole Exome Sequencing for the Diagnosis of Rare Genetic Neurodevelopmental Disorders Associated with Cerebellar Atrophy
Article scientifique · 2023
Correction: Correlating SFTPC gene variants to interstitial lung disease in Egyptian children
Erratum · 2022
Correlating SFTPC gene variants to interstitial lung disease in Egyptian children
Article scientifique · 2022
A potential involvement of PCSK9 in autism etiology: sequence variations, protein concentration and promoter methylation
Article scientifique · 2022

Domaines principaux

Sciences de la santé10 Sciences de la vie et biotechnologies3

Statistiques

Consultations18
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