Mona O. El Ruby

Giza, GZ, Egypt

Last Updated: 09/26/2026

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Found 15 publications

Correction: Correlating SFTPC gene variants to interstitial lung disease in Egyptian children.

Correction: Correlating SFTPC gene variants to interstitial lung disease in Egyptian children.

Journal: Journal, genetic engineering & biotechnology

Published: September 21, 2022

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

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.

Journal: Congenital anomalies

Published: September 18, 2021

Correlating SFTPC gene variants to interstitial lung disease in Egyptian children.

Correlating SFTPC gene variants to interstitial lung disease in Egyptian children.

Journal: Journal, genetic engineering & biotechnology

Published: July 31, 2021

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.

Journal: Molecular syndromology

Published: March 09, 2021

Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.

Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.

Journal: Molecular genetics & genomic medicine

Published: July 05, 2020

Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome.

Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome.

Journal: Molecular syndromology

Published: June 30, 2020

Rubinstein-Taybi syndrome in diverse populations.

Rubinstein-Taybi syndrome in diverse populations.

Journal: American journal of medical genetics. Part A

Published: June 26, 2020

Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.

Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.

Journal: Molecular syndromology

Published: March 19, 2020

Turner syndrome in diverse populations.

Turner syndrome in diverse populations.

Journal: American journal of medical genetics. Part A

Published: September 11, 2019

Williams-Beuren syndrome in diverse populations.

Williams-Beuren syndrome in diverse populations.

Journal: American journal of medical genetics. Part A

Published: December 18, 2017

Showing 1-12 of 15

Last Updated: 09/26/2026