ME
Mona L. Essawi

Publications (4)

ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant
Article scientifique · 2025
A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy
Article scientifique · 2025
Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease
Article scientifique · 2022
Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene
Article scientifique · 2021

Domaines principaux

Sciences de la vie et biotechnologies4

Statistiques

Consultations8
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