Dunia Aburizeg

Amman, AM, Jordan

Last Updated: 09/26/2026

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Found 10 publications

Clinical heterogeneity associated with Bardet-Biedl syndrome-related genes in presumed non-syndromic inherited retinal disease.

Clinical heterogeneity associated with Bardet-Biedl syndrome-related genes in presumed non-syndromic inherited retinal disease.

Journal: Frontiers in cell and developmental biology
Published: February 03, 2026

Histopathological, Immunohistochemical, Molecular and Genetic Biomarkers in Differentiated Thyroid Cancer.

Histopathological, Immunohistochemical, Molecular and Genetic Biomarkers in Differentiated Thyroid Cancer.

Journal: Cancers
Published: July 04, 2025

Phenotypic Variability and Cutaneous Features in 2 Siblings with Fanconi Anaemia and FANCA Mutation.

Phenotypic Variability and Cutaneous Features in 2 Siblings with Fanconi Anaemia and FANCA Mutation.

Journal: Acta dermato-venereologica
Published: March 29, 2024

Genetic profiling of Wilson disease reveals a potential recurrent pathogenic variant of ATP7B in the Jordanian population.

Genetic profiling of Wilson disease reveals a potential recurrent pathogenic variant of ATP7B in the Jordanian population.

Journal: Journal of pediatric gastroenterology and nutrition
Published: January 09, 2024

Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan.

Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan.

Journal: Scientific reports
Published: December 11, 2023

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management.

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management.

Journal: Genes
Published: October 05, 2022

Investigating the genetic profile of familial atypical cystic fibrosis patients (DeltaF508-CFTR) with neonatal biliary atresia.

Investigating the genetic profile of familial atypical cystic fibrosis patients (DeltaF508-CFTR) with neonatal biliary atresia.

Journal: Journal of applied genetics
Published: April 30, 2022

Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study.

Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study.

Journal: Genes
Published: February 25, 2022

TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects.

TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects.

Journal: Molecular medicine reports
Published: January 27, 2022

Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.

Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.

Journal: Genes
Published: March 20, 2021
Showing 1-10 of 10

Last Updated: 09/26/2026