Publications by authors named "Khaled Refaat"

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Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients.
Amal M Mohamed, Ola Eid, Marwa Farid, Engy Ashaat, Ghada M H Abdel-Salam, Khaled M Refaat

BMC Pediatr· July 2025

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Celiac disease risk HLA-DQ haplotypes in an Egyptian cohort using multiplex ligation-dependent probe amplification.
Marwa Farid, Ola M Eid, Rania M A Abdel Kader, Rana Mahrous, Khaled M Refaat

Egypt J Immunol· April 2025

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Generation of Dual-Color FISH probes targeting 9p21, Xp21, and 17p13.1 loci as diagnostic markers for some genetic disorders and cancer in Egypt.
Amal M Mohamed, Maha Eid, Ola Eid, Shymaa H Hussein, Wael Mahmoud, Khaled Refaat

J Genet Eng Biotechnol· March 2025

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A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review.
Mona K Mekkawy, Alaa K Kamel, Khaled M Refaat, Abdelrahman Madian, Mahmoud Issa

Mol Syndromol· February 2025

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Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening copy number variations in Egyptian patients with retinoblastoma.
Ola M Eid, Hosam El Zomor, Amal M Mohamed, Hala T El-Bassyouni, Hanan H Afifi, Khaled Refaat

Ophthalmic Genet· December 2022

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Idiopathic Bradycardia in Unicuspid Unicommissural Aortic Valve Complicated with Infective Endocarditis and Aortic Root Abscess: A Case Report.
Mohammed Nabil Abd Al Jawad, Khaled Refaat, Mohammed Attiya, Nada Abdelhakim, Samar Abdeltawab

Heart Surg Forum· April 2021

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Interstitial Deletion of 2q22.2q22.3 Involving the Entire Gene in a Case of Mowat-Wilson Syndrome.
Khaled Refaat, Nivine Helmy, Mohamed Elawady, Mona El Ruby, Alaa Kamel

Mol Syndromol· April 2021

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Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.
Mona K Mekkawy, Alaa K Kamel, Manal M Thomas, Engy A Ashaat, Maha S Zaki, Khaled M Refaat

Mol Genet Genomic Med· February 2021

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Evaluation of myocardial function in neonatal sepsis using tissue Doppler imaging.
Sameh S Fahmey, Mahmoud Hodeib, Khaled Refaat, Walaa Mohammed

J Matern Fetal Neonatal Med· November 2020

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A Rare Case of Multiorgan Calciphylaxis in a Patient with Stage 5 Chronic Kidney Disease.
Abdulrahman Ahmad, Ali Albaghli, Adel Michael, Khaled Refaat, Mohammad Omar

Case Rep Urol· October 2018

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