Khalda S. Amr

Cairo, C, Egypt

Last Updated: 09/26/2026

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Found 78 publications

Novel Sodium-Dependent Multivitamin Transporter Variant Mimicking Acrodermatitis Enteropathica.

Novel Sodium-Dependent Multivitamin Transporter Variant Mimicking Acrodermatitis Enteropathica.

Journal: JAMA dermatology
Published: January 28, 2026

Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.

Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.

Journal: Molecular biology reports
Published: January 13, 2026

Comprehensive gene profiling by Next-Generation sequencing in a cohort of Egyptian pediatric Atypical HUS.

Comprehensive gene profiling by Next-Generation sequencing in a cohort of Egyptian pediatric Atypical HUS.

Journal: Journal, genetic engineering & biotechnology
Published: October 02, 2025

Modulatory potential of A novel benzofuran-derived compound against aluminium chloride-induced neurotoxicity and miRNA dysregulation: Biochemical and bio-analytical study.

Modulatory potential of A novel benzofuran-derived compound against aluminium chloride-induced neurotoxicity and miRNA dysregulation: Biochemical and bio-analytical study.

Journal: Toxicology reports
Published: August 26, 2025

Gene editing using gamma modified PNA: HBB gene as a model.

Gene editing using gamma modified PNA: HBB gene as a model.

Journal: Journal, genetic engineering & biotechnology
Published: March 10, 2025

DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences.

DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences.

Journal: Journal, genetic engineering & biotechnology
Published: October 09, 2024

Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants.

Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants.

Journal: Journal, genetic engineering & biotechnology
Published: October 08, 2024

Insight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness.

Insight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness.

Journal: Molecular neurobiology
Published: May 01, 2024

Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders.

Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders.

Journal: BMC medical genomics
Published: April 28, 2024

Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature.

Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature.

Journal: Journal, genetic engineering & biotechnology
Published: March 17, 2024

Genetic Correlation of HBB, HFE and HAMP Genes to Endocrinal Complications in Egyptian Beta Thalassemia Major Patients.

Genetic Correlation of HBB, HFE and HAMP Genes to Endocrinal Complications in Egyptian Beta Thalassemia Major Patients.

Journal: Biochemical genetics
Published: March 03, 2024

Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients.

Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients.

Journal: Journal, genetic engineering & biotechnology
Published: July 14, 2023
Showing 1-12 of 78

Last Updated: 09/26/2026