MZ
Maha S. Zaki

Publications (10)

Molecular characterization of imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients
Article scientifique · 2025
ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant
Article scientifique · 2025
The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants
Article scientifique · 2025
Is trofinetide a future treatment for Rett syndrome? A comprehensive systematic review and meta-analysis of randomized controlled trials
Article scientifique · 2024
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32
Article scientifique · 2024
Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation
Article scientifique · 2023
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
Article scientifique · 2019
Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
Article scientifique · 2018
Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation
Article scientifique · 2017
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
Article scientifique · 2016

Domaines principaux

Sciences de la vie et biotechnologies9 Sciences de la santé1

Statistiques

Consultations17
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