Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Samia A Temtamy"'
Autor:
Mona L. Essawi, Ekram M. Fateen, Hanan A. Atia, Noura R. Eissa, Eman H. Aboul-Ezz, Mona M. Ibrahim, Heba A. Hassan, Samia A. Temtamy
Publikováno v:
Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-10 (2021)
Abstract Background Mucolipidosis II (ML II α/β) is an inherited lysosomal storage disorder caused by deficiency of GlcNAc-phosphotransferase enzyme and results in mis-targeting of multiple lysosomal enzymes. Affected patients are characterized by
Externí odkaz:
https://doaj.org/article/61c613f793f842c38196da2d5c2520e0
Autor:
Erika Kague, Francesco Turci, Elis Newman, Yushi Yang, Kate Robson Brown, Mona S. Aglan, Ghada A. Otaify, Samia A. Temtamy, Victor L. Ruiz-Perez, Stephen Cross, C. Patrick Royall, P. Eckhard Witten, Chrissy L. Hammond
Publikováno v:
Bone Research, Vol 9, Iss 1, Pp 1-16 (2021)
Abstract Back pain is a common condition with a high social impact and represents a global health burden. Intervertebral disc disease (IVDD) is one of the major causes of back pain; no therapeutics are currently available to reverse this disease. The
Externí odkaz:
https://doaj.org/article/8819c17624e646f48aa4bc6e7acfe858
Autor:
Dina El Dessouki, Hanaa M. Rady, Naglaa Kholoussi, Khalda Amr, Samia A. Temtamy, Mona Aglan, Manal M.S. Abdou
Publikováno v:
The Egyptian Rheumatologist. 44:361-365
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::80c47d3ab1e1db8bb0a9eea78d9cd10f
https://doi.org/10.1016/j.ejr.2022.07.004
https://doi.org/10.1016/j.ejr.2022.07.004
Autor:
Roberta Besio, Nadia Garibaldi, Laura Leoni, Lina Cipolla, Simone Sabbioneda, Marco Biggiogera, Monica Mottes, Mona Aglan, Ghada A. Otaify, Samia A. Temtamy, Antonio Rossi, Antonella Forlino
Publikováno v:
Disease Models & Mechanisms, Vol 12, Iss 6 (2019)
Osteogenesis imperfecta (OI) types VII, VIII and IX, caused by recessive mutations in cartilage-associated protein (CRTAP), prolyl-3-hydroxylase 1 (P3H1) and cyclophilin B (PPIB), respectively, are characterized by the synthesis of overmodified colla
Externí odkaz:
https://doaj.org/article/9f97c041deb94e468d25a67f4be54661
Autor:
Ehab Aboul-Ezz, Samia El-Temtamy, Nadia Hegazi, Najwa Abd El-Megid, Mohamed Nour El-Sayed Ahmed, Ali El-Hazmi
Publikováno v:
MEJ. Mansoura Engineering Journal. 20:12-22
With technical and industrial advances which have become a significant part of today's economic growth, remarkable advances have been made in the development and use of technical capabilities that enhance the endeavor of the medical profession. The d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19bf13782234690abe014514e5cf2472
https://doi.org/10.21608/bfemu.2021.162259
https://doi.org/10.21608/bfemu.2021.162259
Autor:
Ghada A. Otaify, Engy A. Ashaat, Mona Aglan, Mona L. Essawi, Samira Ismail, Manal M. Thomas, Mohamed Abdelhamid, Sonia A. Alsaiedi, Samia A. Temtamy, Mona O. El Ruby, Heba A. Hassan
Publikováno v:
Molecular Syndromology. 12:279-288
Desbuquois dysplasia type 1 (DBQD1) is a very rare skeletal dysplasia characterized by growth retardation, short stature, distinct hand features, and a characteristic radiological monkey wrench appearance at the proximal femur. We report on 2unrelate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::752295288919b00ea364b1893a70f7da
https://doi.org/10.1159/000516607
https://doi.org/10.1159/000516607
Autor:
Ghada A. Otaify, Mohamed Abdelhamid, Maha S. Zaki, Samia A. Temtamy, Sonia A. El Saeidi, Engy A. Ashaat, Mona Aglan, Mona O. El-Ruby, Mahmoud Y. Issa, Samira Ismail, Abdelrahim Abdrabou Sadek
Publikováno v:
American Journal of Medical Genetics Part A. 182:2857-2866
Blepharophimosis-ptosis-intellectual disability syndrome (BPID) is an extremely rare recognizable blepharophimosis intellectual disability syndrome (BID). It is caused by biallelic variants in the UBE3B gene with only 24 patients described worldwide.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d37ca73839c80e24e1069e8b16a289f7
https://doi.org/10.1002/ajmg.a.61857
https://doi.org/10.1002/ajmg.a.61857
Autor:
Maha M. Eid, Mahmoud Y Essa, Aya Elaidy, Alaa K. Kamel, Mona O. El-Ruby, Samia A. Temtamy, Saida A Hammad, Ghada A. Otaify, Samira Esmail, Ola M. Eid, Amal M. Mohamed, Maha S. Zaki, Engy A. Ashaat, Mona Aglan, Ghada El-Kamah, Mona K. Mekkawy, Hanan H. Afifi, Shymaa H Hussein, Inas Mazen, Heba ElAwady, Ghada M H Abdel-Salam
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
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. Methods We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b91fae0e36b4e8b127f3accb52d3f6e
https://doaj.org/article/2bfe665e28c74ca3b3ab3b493e122b7b
https://doaj.org/article/2bfe665e28c74ca3b3ab3b493e122b7b
Autor:
Heba A. Hassan, Hanan Abd Elmawgoud Atia, Samia A. Temtamy, Ekram M. Fateen, Eman Aboul-Ezz, Mona M. Ibrahim, Mona L. Essawi, Noura R. Eissa
Publikováno v:
Journal of Genetic Engineering & Biotechnology
Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-10 (2021)
Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-10 (2021)
Background Mucolipidosis II (ML II α/β) is an inherited lysosomal storage disorder caused by deficiency of GlcNAc-phosphotransferase enzyme and results in mis-targeting of multiple lysosomal enzymes. Affected patients are characterized by skeletal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::768162f8d51b257070092992cd7cd319
https://doi.org/10.1186/s43141-021-00204-4
https://doi.org/10.1186/s43141-021-00204-4
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(11)
Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders, has been used in the low- and middle-income countries largely as a tool for improving clinical care, teaching genetics and genomics, and for clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aba99a731f4b2898d42bfe24da91abcd
https://pubmed.ncbi.nlm.nih.gov/34492150
https://pubmed.ncbi.nlm.nih.gov/34492150