Publications by authors named "Manal Thomas"

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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, Manal M Thomas

Egypt J Immunol· April 2025

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Importance of TREC and KREC as molecular markers for immunological evaluation of down syndrome children.
Eman Eissa, Hanan H Afifi, Assem M Abo-Shanab, Manal M Thomas, Mohamed B Taher

Sci Rep· September 2023

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Genetic Implications in High-Risk Pregnancy and Its Outcome: A 2-Year Study.
Hanan H Afifi, Khaled R Gaber, Manal M Thomas, Mohamed B Taher, Angie M S Tosson

Am J Perinatol· November 2022

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Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.
Manal M Thomas, Heba Mostafa Ahmed, Sara H El-Dessouky, Abeer Ramadan, Osama Ezzat Botrous

Mol Genet Genomics· May 2022

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First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous Mutations.
Manal M Thomas, Engy A Ashaat, Ghada A Otaify, Samira Ismail, Mona L Essawi

Mol Syndromol· August 2021

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A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
Maha S Zaki, Mahmoud Y Issa, Manal M Thomas, Hasnaa M Elbendary, Karima Rafat

Neurol Sci· July 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

Mol Genet Genomic Med· February 2021

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Mutation in the Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature.
Hala T El-Bassyouni, Manal M Thomas, Angie M S Tosson

J Pediatr Genet· June 2020

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Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome.
Manal Micheal Thomas, Mohamed S Abdel-Hamid, Nermine Nabil Mahfouz, Emad Emil Ghobrial

J Formos Med Assoc· January 2018

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Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-Lefèvre Syndrome?
Mostafa Ibrahim Mostafa, Maha Rashed Abouzaid, Manal Micheal Thomas, Ghada Yousef El-Kamah

J Pediatr Genet· December 2017

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Quality of Life Outcomes in a Pediatric Thalassemia Population in Egypt.
Soheir Adam, Hanan Afifi, Manal Thomas, Phoebe Magdy, Ghada El-Kamah

Hemoglobin· January 2017

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Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters.
Sohair Abd-El Mawgood Abd-Elmaksoud, Hala El-Bassyouni, Hanan Afifi, Manal Micheal Thomas, Alshaymaa Ahmed Ibrahim

J Clin Diagn Res· November 2015

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De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.
Hanan H Afifi, Ryoko Fukai, Noriko Miyake, Amina A Gamal El Din, Maha M Eid, Manal M Thomas

Am J Med Genet A· October 2015

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Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone.
Ghada M H Abdel-Salam, Sawsan Abdel-Hadi, Manal M Thomas, Ola M Eid, Manal M Ali

Am J Med Genet A· February 2014

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Growth charts of Down syndrome in Egypt: a study of 434 children 0-36 months of age.
Hanan H Afifi, Mona S Aglan, Moushira E Zaki, Manal M Thomas, Angie M S Tosson

Am J Med Genet A· November 2012

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Evidence of oxidative stress in peroxisomal disorders.
Hala Tabie El-Bassyouni, Soheir A Abdel Maksoud, Fadia A Salem, Reem Badr El-Deen, Hisham Abdel Aziz, Manal Michel Thomas

Singapore Med J· September 2012

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