Search Results - "Taher, Mohamed B"

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

“…Recurrent and severe infections occurred in children with Down Syndrome (DS) due to immunological parameter defects have been reported. The aim of the study is…”
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Expanding the phenotypic spectrum and clinical severity associated with WLS gene by Abdel-Salam, Ghada M H, Afifi, Hanan H, Abdel-Hamid, Mohamed S, Ahmed, Nermeen E B, Taher, Mohamed B, El-Kamah, Ghada, Thiele, Holger, Nürnberg, Peter N, Bolz, Hanno J

“…WLS (Wnt ligand secretion mediator or Wntless) orchestrates the secretion of all Wnt proteins, a family of evolutionary conserved proteins, involved in Wnt…”
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Corrigendum to “Defining the molecular pathology and consequent phenotypes in Egyptian HB patients” [J. Genet. Eng. Biotechnol. 19(1) (2021) 75] by El-Kamah, Ghada Y., Mosaad, Rehab M., Taher, Mohamed B., Amr, Khalda S.

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Defining the molecular pathology and consequent phenotypes in Egyptian HB patients by El-Kamah, Ghada Y, Mosaad, Rehab M, Taher, Mohamed B, Amr, Khalda S

“…Background Hemophilia B (HB) (also known as Christmas disease) is a rare X-linked recessive disorder characterized by spontaneous or prolonged hemorrhages…”
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Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients by Sayed-Ahmed, Mohammed M., El-Bassyouni, Hala T., Afifi, Hanan H., Essawi, Mona L., Taher, Mohamed B., Gadelhak, Mohamed I., Zaytoun, Rehab A., Abdelmonem, Ahmed A., Elbagoury, Nagham M.

“…Hearing loss (HL) is one of the most common health problems worldwide. Autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL) represents a large…”
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Genetic Correlation of HBB, HFE and HAMP Genes to Endocrinal Complications in Egyptian Beta Thalassemia Major Patients by Sokkar, Mona F, Hamdy, Mona, Taher, Mohamed B, El-Sayed, Heba, Bayomi, Eman Abdelmotaleb, Amr, Khalda S, El-Kamah, Ghada Y

“…Iron loading is regarded as the primary cause of endocrine abnormalities in thalassemia major patients. Thus, the purpose of the current research was to…”
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Genetic Implications in High-Risk Pregnancy and Its Outcome: A 2-Year Study by Afifi, Hanan H, Gaber, Khaled R, Thomas, Manal M, Taher, Mohamed B, Tosson, Angie M S

“…The aim of this study is to evaluate high-risk pregnant females' offspring as regard the presence of any medical condition, hereditary disorder, or major…”
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Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families by El-Kamah, Ghada Y, Mehrez, Mennat I, Taher, Mohamed B, El-Bassyouni, Hala T, Gaber, Khaled R, Amr, Khalda S

“…gene mutations underlie osteopetrosis, a rare genetic disorder impacting osteoclast function with consequent brittle bones prone to fracture, in spite of being…”
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Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients by Sokkar, Mona F, Hamdy, Mona, Erian, Peter SF, Mosaad, Rehab M, Elaraby, Nesma M, Taher, Mohamed B, El-Sayed, Heba

“…Background Aplastic anemia (AA) is a bone marrow disorder characterized by peripheral pancytopenia and marrow hypoplasia which can lead to life-threatening…”
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Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation by Abdel-Salam, Ghada M H, Abdel-Hamid, Mohamed S, Mehrez, Mennat I, Kamal, Ahmad M, Taher, Mohamed B, Afifi, Hanan H

“…Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the…”
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Outlining the Clinical Profile of ITCIRG1 14 Variants/I including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families by El-Kamah, Ghada Y, Mehrez, Mennat I, Taher, Mohamed B, El-Bassyouni, Hala T, Gaber, Khaled R, Amr, Khalda S

“…TCIRG1 gene mutations underlie osteopetrosis, a rare genetic disorder impacting osteoclast function with consequent brittle bones prone to fracture, in spite…”
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Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation by Abdel-Salam, Ghada M.H., Abdel-Hamid, Mohamed S., Mehrez, Mennat I., Kamal, Ahmad M., Taher, Mohamed B., Afifi, Hanan H.

“…Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the…”
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