Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Mohamed B. Taher"'
Publikováno v:
Journal of Genetic Engineering and Biotechnology, Vol 22, Iss 2, Pp 100374- (2024)
Externí odkaz:
https://doaj.org/article/e50bd9c9c6bf43038bd79266a8b5f3b2
Autor:
Eman Eissa, Hanan H. Afifi, Assem M. Abo-Shanab, Manal M. Thomas, Mohamed B. Taher, Rania Kandil, Naglaa M. Kholoussi
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract 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 to evaluate the importance of using T-cell receptor excision circle (TREC) and ka
Externí odkaz:
https://doaj.org/article/764297d4e3f54bc293af097158dc7e57
Autor:
Ghada Y. El-Kamah, Mennat I. Mehrez, Mohamed B. Taher, Hala T. El-Bassyouni, Khaled R. Gaber, Khalda S. Amr
Publikováno v:
Genes, Vol 14, Iss 4, p 900 (2023)
TCIRG1 gene mutations underlie osteopetrosis, a rare genetic disorder impacting osteoclast function with consequent brittle bones prone to fracture, in spite of being characterized by increased bone density. The disorder is known to exhibit marked ge
Externí odkaz:
https://doaj.org/article/bcea2ea907954b10a2da99bf144b1c29
Publikováno v:
Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-6 (2021)
Abstract Background Hemophilia B (HB) (also known as Christmas disease) is a rare X-linked recessive disorder characterized by spontaneous or prolonged hemorrhages caused by mutations in Factor 9 (F9) gene leading to deficient or defective coagulatio
Externí odkaz:
https://doaj.org/article/6fb8025af1934b8da22d920a0c6fd9de
Autor:
Ghada M. H. Abdel-Salam, Hanan H. Afifi, Mohamed S. Abdel-Hamid, Nermeen E. B. Ahmed, Mohamed B. Taher, Ghada El-Kamah, Holger Thiele, Peter N. Nürnberg, Hanno J. Bolz
Publikováno v:
Journal of Human Genetics.
Unilateral Isolated Proximal Femoral Focal Deficiency in an Egyptian Infant and Review of Literature
Publikováno v:
Journal of Child Science. 10:e126-e133
Proximal femoral focal deficiency (PFFD) is a rare congenital anomaly of the femur ranging from mild shortening to total agenesis. If left untreated, it could lead to impaired child growth, abnormal gait, vertebral abnormalities, cosmetic problems, a
Publikováno v:
Journal of Genetic Engineering & Biotechnology
Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-6 (2021)
Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-6 (2021)
Background Hemophilia B (HB) (also known as Christmas disease) is a rare X-linked recessive disorder characterized by spontaneous or prolonged hemorrhages caused by mutations in Factor 9 (F9) gene leading to deficient or defective coagulation F9. Our
Publikováno v:
American journal of perinatology. 39(15)
Objective 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 anomaly as well as to document parental sociodemographic characteristics and complianc
Autor:
Hanan H. Afifi, Mohamed B. Taher, Ahmad M. Kamal, Mennat I Mehrez, Mohamed S. Abdel-Hamid, Ghada M H Abdel-Salam
Publikováno v:
Ophthalmic Genetics. 39:215-220
Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the tot