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1دورية أكاديمية
المؤلفون: Hamed Nawaz, Asia Parveen, Sher Alam Khan, Abul Khair Zalan, Muhammad Adnan Khan, Noor Muhammad, Nehal F. Hassib, Mostafa I. Mostafa, Rasha M. Elhossini, Nehal Nabil Roshdy, Asmat Ullah, Amina Arif, Saadullah Khan, Ole Ammerpohl, Naveed Wasif
المصدر: Heliyon, Vol 10, Iss 1, Pp e23688- (2024)
مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Exome sequencing, Frameshift variants, Hearing impairment, Homozygous splice acceptor site, Science (General), Q1-390, Social sciences (General), H1-99
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844023108966Test; https://doaj.org/toc/2405-8440Test
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2
المؤلفون: Rasha M. Elhossini, Hasnaa M. Elbendary, Karima Rafat, Raghda M. Ghorab, Mohamed S. Abdel-Hamid
المصدر: Molecular Genetics and Genomics. 298:709-720
مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::31dc93314f7475fd5f06e539aab74ed3Test
https://doi.org/10.1007/s00438-023-02009-1Test -
3
المؤلفون: Ghada A. Otaify, Rasha M. Elhossini, Sherif F. Abdel‐Ghafar, Inas M. Sayed, Ghada M. H. Abdel‐Salam, Mona S. Aglan, Mohamed S. Abdel‐Hamid
المصدر: American Journal of Medical Genetics Part A.
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7e3fa57f93748c9d68a11cc5e5f3ef2dTest
https://doi.org/10.1002/ajmg.a.63246Test -
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المؤلفون: Ghada A. Otaify, Mohamed S. Abdel‐Hamid, Nehal F. Hassib, Rasha M. Elhossini, Sherif F. Abdel‐Ghafar, Mona S. Aglan
المصدر: American Journal of Medical Genetics Part A. 188:1815-1825
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6bc98ff221888f0fe65cfee3ded3239cTest
https://doi.org/10.1002/ajmg.a.62718Test -
5
المؤلفون: Mohamed S. Abdel-Hamid, Rasha M. Elhossini, Ghada A. Otaify, Sherif F. Abdel-Ghafar, Mona S. Aglan
المصدر: Osteoporosis International. 33:1501-1510
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2dce6fb0863248d11a2302290bd7c088Test
https://doi.org/10.1007/s00198-022-06313-1Test -
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المؤلفون: Ghada A, Otaify, Mohamed S, Abdel-Hamid, Nehal F, Hassib, Rasha M, Elhossini, Sherif F, Abdel-Ghafar, Mona S, Aglan
المصدر: American journal of medical genetics. Part AREFERENCES. 188(6)
مصطلحات موضوعية: Arthrogryposis, Tacrolimus Binding Proteins, Contracture, Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase, Mutation, Humans, Osteogenesis Imperfecta, Musculoskeletal Abnormalities
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::51d85000dcbc7c26d3daaa021af56b0bTest
https://pubmed.ncbi.nlm.nih.gov/35278031Test -
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المؤلفون: Mohamed S, Abdel-Hamid, Rasha M, Elhossini, Ghada A, Otaify, Sherif F, Abdel-Ghafar, Mona S, Aglan
المصدر: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. 33(7)
مصطلحات موضوعية: Low Density Lipoprotein Receptor-Related Protein-5, Diphosphonates, Bone Density, Humans, Osteogenesis Imperfecta
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::344415fbdc29e5339441f17bbce7e6e9Test
https://pubmed.ncbi.nlm.nih.gov/35106624Test -
8دورية أكاديمية
المؤلفون: Raghda, M Ghorab, Nahla, M Zakaria, Shams, M Kholoussi, Rasha, M Mamdouh, Haiam, A Raouf, Rasha, M Elhossini, Doaa, M Abdelaziz, Fayez, Alaaeldin, Samia, A Temtamy
المصدر: Middle East Journal of Medical Genetics; Jul-Dec2020, Vol. 9 Issue 2, p1-17, 17p
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9دورية أكاديمية
المؤلفون: Hamed Nawaz, Asia Parveen, Sher Alam Khan, Abul Khair Zalan, Muhammad Adnan Khan, Noor Muhammad, Nehal F. Hassib, Mostafa I. Mostafa, Rasha M. Elhossini, Nehal Nabil Roshdy, Asmat Ullah, Amina Arif, Saadullah Khan, Ole Ammerpohl, Naveed Wasif
المصدر: Heliyon, Vol 10, Iss 1, Pp e23688- (2024)
مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Exome sequencing, Frameshift variants, Hearing impairment, Homozygous splice acceptor site, Science (General), Q1-390, Social sciences (General), H1-99
العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844023108966Test; https://doaj.org/toc/2405-8440Test; https://doaj.org/article/0f91f966fd7d4676bcf74cad84128e34Test
الإتاحة: https://doi.org/10.1016/j.heliyon.2023.e23688Test
https://doaj.org/article/0f91f966fd7d4676bcf74cad84128e34Test