MZ
Maha Zaki
National Research Centre
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders · Fetal and Pediatric Neurological Disorders
0000-0001-7840-0002
Employment
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National Research Centre Prof of Clinical Genetics Department
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (201)
- A Middle East collaborative for undiagnosed diseases Save
- Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement Save
- Clinical and Genetic Characterization of CAPN3-Related Limb-Girdle Muscular Dystrophies in an Egyptian Cohort Save
- Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients Save
- Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes Save
- PIGC-related encephalopathy: Lessons learned from 18 new probands Save
- CEP76 Impairment at the Centrosome-Cilium interface Contributes to a Spectrum of Ciliopathies Save
- Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB‐Related Neurodevelopmental Disorders Save
- Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy Save
- Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort Save
- Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing Save
- Genomics of rare diseases in the Greater Middle East Save
- Lipidomic profiling of mouse brain and human neuron cultures reveals a role for Mboat7 in mTOR-dependent neuronal migration Save
- Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities Save
- Is trofinetide a future treatment for Rett syndrome? A comprehensive systematic review and meta-analysis of randomized controlled trials Save
- Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder Save
- Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics Save
- Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease Save
- Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome Save
- Delineating the phenotype of PNPLA8‐related mitochondriopathies Save