Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Ghada Y. El-Kamah"'
Autor:
Sahar Mostafa Elhadidi, Mohamed Ossama Hassan, Nadia Lashin Soliman, Eman Hassan Abouel-Ezz, Mona Mahmoud ElBatran, Ghada Y. El-Kamah, Khalda Sayed Amr
Publikováno v:
Bulletin of the National Research Centre, Vol 48, Iss 1, Pp 1-7 (2024)
Abstract Background Anthropology is a scientific discipline which applies scientific methods to identify and quantitate inter-individual variations in body structure and function. Anthropometry assesses craniofacial dysmorphology in genetic disorders
Externí odkaz:
https://doaj.org/article/b736ab987fa24ad4bbf4ec5df3e5b3b4
Publikováno v:
Journal of Genetic Engineering and Biotechnology, Vol 22, Iss 2, Pp 100374- (2024)
Externí odkaz:
https://doaj.org/article/e50bd9c9c6bf43038bd79266a8b5f3b2
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:
Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona Mekkawy, Shymaa H. Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada Y. El‐Kamah, Ghada A. Otaify, Heba Ahmed El‐Awady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia Temtamy
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion. Me
Externí odkaz:
https://doaj.org/article/2bfe665e28c74ca3b3ab3b493e122b7b
Autor:
Rehab M. Mosaad, Khalda S. Amr, Eman A. Rabie, Naglaa O. Mostafa, Sonia A. Habib, Ghada Y. El‐Kamah
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Abstract Background Hemophilia A (HA) is an inherited X‐linked recessive coagulation disorder caused by factor VIII (F8) deficiency. F8 rearrangements involving intron 22 (int22) and intron 1 (int1) account for almost half of severe HA phenotype al
Externí odkaz:
https://doaj.org/article/52f5c1ffa7df41dc9263349910215ee5
Publikováno v:
Journal of Environmental Science. 48:15-26
Fanconi anemia is a genetically and phenotypically heterogenous disorder characterized by DNA repair deficiency and telomeric erosion. Different antioxidants have been assessed to regain the chromosomal stability in Fanconi anemia, among those is the
Publikováno v:
Sexual Development. 12:239-243
Fanconi anemia (FA) is a pleiotropic condition with 2 characteristic phenotypic markers of hematological and cytogenetic changes. The phenotype of patients with FA is very heterogeneous, associated with an array of congenital malformations affecting
Publikováno v:
Gene Reports. 18:100573
Introduction Neurofibromatosis 1 (NF1) is an autosomal dominant disorder characterized by the presence of certain clinical manifestation. The most common clinical features are, hyperpigmented areas, neurofibromas and Lisch nodules of the iris. The di
Autor:
Ghada Y, El-Kamah, Mostafa I, Mostafa
Publikováno v:
Dermatology online journal. 15(5)
Infantile systemic hyalinosis (ISH) (MIM 236490) is a rare, progressive, fatal autosomal recessive condition characterized by widespread deposition of hyaline material in many tissues. Our proband was a 4-year-old male with growth retardation, severe