Alaaeldin G. Fayez

Cairo, C, Egypt

Last Updated: 09/26/2026

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Found 17 publications

Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients.

Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients.

Journal: BMC pediatrics
Published: October 24, 2024

Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features.

Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features.

Journal: BMC genomics
Published: March 30, 2024

Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome.

Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome.

Journal: Scientific reports
Published: October 26, 2023

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

Journal: Molecular neurobiology
Published: June 01, 2023

Immunological and molecular study in children with combined immunodeficiency.

Immunological and molecular study in children with combined immunodeficiency.

Journal: European annals of allergy and clinical immunology
Published: February 14, 2023

New drug-like small molecule antagonizes phosphatidylinositol (3,4,5)-trisphosphate (PIP3) in patients with conotruncal heart defects.

New drug-like small molecule antagonizes phosphatidylinositol (3,4,5)-trisphosphate (PIP3) in patients with conotruncal heart defects.

Journal: Journal of Taibah University Medical Sciences
Published: September 18, 2022

miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients.

miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients.

Journal: The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology
Published: February 23, 2022

Dynamic disequilibrium-based pathogenicity model in mutated pyrin's B30.2 domain-Casp1/p20 complex.

Dynamic disequilibrium-based pathogenicity model in mutated pyrin's B30.2 domain-Casp1/p20 complex.

Journal: Journal, genetic engineering & biotechnology
Published: August 23, 2021

Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients.

Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients.

Journal: Journal, genetic engineering & biotechnology
Published: July 11, 2021

DALIA- a comprehensive resource of Disease Alleles in Arab population.

DALIA- a comprehensive resource of Disease Alleles in Arab population.

Journal: PloS one
Published: August 27, 2020

The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.

The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.

Journal: Behavioural brain research
Published: June 02, 2019

Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia.

Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia.

Journal: The application of clinical genetics
Published: July 28, 2018
Showing 1-12 of 17

Last Updated: 09/26/2026