Search Results - "Middle East Journal of Medical Genetics" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Phelan–McDermid Syndrome: Expanding the Phenotype

Phelan–McDermid Syndrome: Expanding the Phenotype

by El-Bassyouni, Hala, Eid, Ola, Ismail, Samira, El-Ruby, Mona, Ashaat, Engy, Mahrous, Rana, Hussein, Shymaa, Kamel, Alaa, Zaki, Maha, Hamed, Khaled, Soliman, Doaa, Mohamed, Ramy, Mohamed, Amal
Published in Middle East Journal of Medical Genetics (01.07.2022)

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A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma

A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma

by Elkhouly, Asmaa, Amer, Mahmoud, Ismail, Somaia, Issa, Mahmoud, Hamed, Khaled, Abdel-Hamid, Mohamed, Baiomy, Ahmed
Published in Middle East Journal of Medical Genetics (01.07.2022)

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The Need for Continuous Genomic Surveillance for Early Diagnosis of Novel Virus Infection

The Need for Continuous Genomic Surveillance for Early Diagnosis of Novel Virus Infection

by Ravichandhiran, Gowthamkarthic, Agadi, Soumya
Published in Middle East Journal of Medical Genetics (01.07.2022)

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Trials for Implementing Cost-effective Fanconi Anemia (FA) Molecular Diagnosis

Trials for Implementing Cost-effective Fanconi Anemia (FA) Molecular Diagnosis

by Sabry, Sahar, Mosaad, Rehab, Hamed, Khaled, Eid, Maha, Amr, Khalda, El-Kamah, Ghada
Published in Middle East Journal of Medical Genetics (01.07.2022)

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Prenatal Screening of Sialic Acid-Storage Disease in Nonimmune Hydrops Fetalis

Prenatal Screening of Sialic Acid-Storage Disease in Nonimmune Hydrops Fetalis

by Abozid, Heba, Gouda, Amr, El Noury, Mohamed, Sharnoubi, Jehan, Nazim, Walaa, Gaber, Khaled
Published in Middle East Journal of Medical Genetics (01.07.2022)

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Health-related quality of life in Egyptian patients with familial Mediterranean fever

Health-related quality of life in Egyptian patients with familial Mediterranean fever

by Thomas, Manal, El-Bassyouni, Hala, Abd El-Massieh, Phoebe, Hamed, Khaled
Published in Middle East Journal of Medical Genetics (01.01.2022)

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Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients

Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients

by Megahed, Hisham, Ashaat, Engy, Ismail, Samira, Ashaat, Neveen, Cantagrel, Vincent, El Ruby, Mona
Published in Middle East Journal of Medical Genetics (01.01.2022)

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Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort

Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort

by Thomas, Manal, Farid, Marwa, El-Kamah, Ghada, Abd El-Massieh, Phoebe, Erian, Peter, Eid, Maha
Published in Middle East Journal of Medical Genetics (01.01.2022)

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Influence of Different Concentrations of Human Platelet Rich Plasma Versus Fetal Bovine Serum on Periodontal Ligament Derived Stem Cells

Influence of Different Concentrations of Human Platelet Rich Plasma Versus Fetal Bovine Serum on Periodontal Ligament Derived Stem Cells

by Abdelfattah, Maha, Gamal El Din, Heba
Published in Middle East Journal of Medical Genetics (01.01.2022)

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Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children

Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children

by Abdel Kader, Rania M.A., Eid, Ola M., Abdelrahman, Amany, Farid, Marwa, Mahrous, Rana, Abd El-Fattah, Safa, Mohamed, Amal, Hussein, Fatma, Eid, Maha, Meguid, Nagwa
Published in Middle East Journal of Medical Genetics (31.08.2024)

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Cytogenetic and clinical description of maternally inherited pure trisomy 4p

Cytogenetic and clinical description of maternally inherited pure trisomy 4p

by Eid, Ola M., Eid, Maha, Abdel Kader, Rania M.A., Abdel Salam, Ghada M.H.
Published in Middle East Journal of Medical Genetics (27.08.2024)

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Association of anti-thyroid peroxidase antibody among Euthyroid women with adverse pregnancy outcomes

Association of anti-thyroid peroxidase antibody among Euthyroid women with adverse pregnancy outcomes

by Shaker, Mai, Shalabi, Taghreed
Published in Middle East Journal of Medical Genetics (27.02.2024)

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Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH)

Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH)

by Erian, Peter, El-Kamah, Ghada, Eid, Maha, Mohamed, Amal
Published in Middle East Journal of Medical Genetics (12.02.2024)

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Development of mRNA vaccine against Measles virus globally

Development of mRNA vaccine against Measles virus globally

by Kassab, Mohammed
Published in Middle East Journal of Medical Genetics (24.01.2024)

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Increased LncRNA TUG1 expression level impacted ankylosing spondylitis risk, association with disability, and patients’ quality of life

Increased LncRNA TUG1 expression level impacted ankylosing spondylitis risk, association with disability, and patients’ quality of life

by Tawfeek, Gehan, esaily, Heba, Fetoh, Dina
Published in Middle East Journal of Medical Genetics (10.08.2023)

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Genetics of Retinoblastoma

Genetics of Retinoblastoma

by Mohamed, Amal, Eid, Ola M, Kamel, Alaa K, Afifi, Hanan H.
Published in Middle East Journal of Medical Genetics (01.07.2023)

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Corneal Opacity and Genetics

Corneal Opacity and Genetics

by Eid, Ola, Erian, Peter SF
Published in Middle East Journal of Medical Genetics (01.07.2023)

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Genetic Factors Study among Congenital Heart Disease Children Using Multiplex Ligation Dependent Probe Amplification

Genetic Factors Study among Congenital Heart Disease Children Using Multiplex Ligation Dependent Probe Amplification

by Refaat, Khaled M., Mekkawy, Mona K, Ashaat, Engy A., Eid, Ola M., Helmy, Nivine A.
Published in Middle East Journal of Medical Genetics (01.07.2023)

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Elevated CDR1as may affect CACNG5 and EGFR via hsa-miR-7-5p sponge in childhood dilated cardiomyopathy patients

Elevated CDR1as may affect CACNG5 and EGFR via hsa-miR-7-5p sponge in childhood dilated cardiomyopathy patients

by Esmaiel, Nora N., LA, Ibrahim, Fayez, Alaaeldin, Ammar, Tamer H.A., El-Bassyouni, Hala T.
Published in Middle East Journal of Medical Genetics (01.07.2023)

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Role of three-prime repair exonuclease (TREX1) variants in the susceptibility to systemic lupus erythematosus patients

Role of three-prime repair exonuclease (TREX1) variants in the susceptibility to systemic lupus erythematosus patients

by El Dessouki, Dina, Abdel-Hamid, Mohamed S, Effat, Laila, Kholoussi, Naglaa, Mahmoud, Geilan A, Niazy, Marwa H., Abdel-Salam, Ghada
Published in Middle East Journal of Medical Genetics (01.07.2023)

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