Maha S. Zaki

Cairo, C, Egypt

Last Updated: 09/26/2026

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Found 272 publications

PINK1-Associated Juvenile-Onset Parkinsonism: Marked Phenotypic Variability and Limited Genotype-Phenotype Correlation.

PINK1-Associated Juvenile-Onset Parkinsonism: Marked Phenotypic Variability and Limited Genotype-Phenotype Correlation.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: July 20, 2026

Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.

Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.

Journal: Research square

Published: July 17, 2026

AAV-mediated CBLN1 replacement rescues hereditary ataxia caused by biallelic CBLN1 variants.

AAV-mediated CBLN1 replacement rescues hereditary ataxia caused by biallelic CBLN1 variants.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: April 21, 2026

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Journal: Ophthalmic genetics

Published: March 08, 2026

The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI.

The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI.

Journal: Journal of human genetics

Published: March 04, 2026

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.

Journal: HGG advances

Published: February 09, 2026

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.

Journal: medRxiv : the preprint server for health sciences

Published: January 08, 2026

Phenotypic and Genetic Characterization of 64 Egyptian Children With Neuronal Ceroid Lipofuscinosis.

Phenotypic and Genetic Characterization of 64 Egyptian Children With Neuronal Ceroid Lipofuscinosis.

Journal: Pediatric neurology

Published: January 05, 2026

Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.

Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.

Journal: Neurogenetics

Published: December 18, 2025

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

Journal: European journal of pediatrics

Published: December 01, 2025

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Journal: HGG advances

Published: November 26, 2025

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Journal: Genome medicine

Published: November 04, 2025

Showing 1-12 of 272

Last Updated: 09/26/2026