8 Mar 2026
Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal contextPublisher siteOphthalmic Genetics, Ocular Disorders and Treatments
UniversitiesEbtesam Abdalla
Active, last published 2026
Ebtesam
Abdalla
Scholar“Research profile drawn from open scholarly records.”
Alexandria University
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01 · About the work
What I study
research summary for Ebtesam Abdalla will appear here once their profile is updated.
02 · Reach
Publication output and reach
Ebtesam's work has been cited 24 times across 3 active years. Bars show publications per year; the line shows cumulative citation totals across publications first appearing in each year.
04 · Where I am
Affiliations
Affiliation on published researchAlexandria UniversityDrawn from the institution listed on this researcher’s published work.
Research themes (UN SDGs)
05 · Selected work
Recent publications
12 works25 Nov 2025Open access
Expanding the phenotype associated with biallelic SCNM1 variantsPublisher siteHuman Genomics
15 Oct 2025
Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal PhenotypesPublisher siteClinical Genetics, Connective tissue disorders research
1 Oct 2025
Lessons learned from the exome sequencing of nine cases of infertility and the way forwardPublisher siteReproductive BioMedicine Online, Prenatal Screening and Diagnostics
17 Jun 2025Open access
KREMEN1 Variants Associated with Ectodermal Dysplasia Impair Complex Formation of KREMEN1 with DKK1 and LRP6 and Attenuate WNT3A ResponsePublisher siteJournal of Investigative Dermatology, Wnt/β-catenin signaling in development and cancer
29 Apr 20251cites
Analysis of Copy Number Variants Is an Important Consideration in Exome SequencingPublisher siteClinical Genetics, Genomic variations and chromosomal abnormalities
26 Mar 2025Open access5cites
An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional FamiliesPublisher siteAmerican Journal of Medical Genetics Part A, Ubiquitin and proteasome pathways
13 Mar 20254cites
Gamma-aminobutyric acid and glutamate system dysregulation in a small population of Egyptian children with autism spectrum disorderPublisher siteMetabolic Brain Disease, GABA and Rice Research
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