Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Ahmed K. Saad"'
Autor:
Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)
Abstract Background Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association rema
Externí odkaz:
https://doaj.org/article/f946c3f7f70a4b7caee99c8a98b2e0b2
Autor:
Rabab Khairat, Hanaa El-Karaksy, Hala T. El-Bassyouni, Ahmed K. Saad, Eman Rabie, Khaled Hamed, Noha A. Yassin
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-9 (2022)
Abstract Background Alagille syndrome (ALGS) is a rare autosomal dominant multisystem disorder that affects the liver, heart, eyes, vertebrae, and kidneys and is associated with characteristic facies. This work aimed to study the spectrum of the clin
Externí odkaz:
https://doaj.org/article/e4bad33ceb684f60b95de39dd56dfd05
Autor:
Hasnaa M. Elbendary, Dana Marafi, Ahmed K. Saad, Rasha Elhossini, Ruizhi Duan, Karima Rafat, Shalini N. Jhangiani, Richard A. Gibbs, Davut Pehlivan, Daniel G. Calame, Jennifer E. Posey, James R. Lupski, Maha S. Zaki
Publikováno v:
Clinical Genetics.
Autor:
Tadahiro Mitani, Zeynep Coban-Akdemir, Jawid M Fatih, Jill V. Hunter, James R. Lupski, Maha S. Zaki, Ahmed K Saad, Dana Marafi, Richard A. Gibbs, Haowei Du, Davut Pehlivan, Jennifer E. Posey, Shalini N. Jhangiani, Karima Rafat
Publikováno v:
Am J Med Genet A
Alkylated DNA repair protein AlkB homolog 8 (ALKBH8) is a member of the AlkB family of dioxygenases. ALKBH8 is a methyltransferase of the highly variable wobble nucleoside position in the anticodon loop of tRNA and thus plays a critical role in tRNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f00be4c2dc9384678d62475f4208c600
https://europepmc.org/articles/PMC8450764/
https://europepmc.org/articles/PMC8450764/
Autor:
Richard A. Gibbs, Davut Pehlivan, Shalini N. Jhangiani, Haowei Du, Hasnaa M. Elbendary, Dana Marafi, Maha S. Zaki, Jennifer E. Posey, Ahmed K Saad, Jill V. Hunter, James R. Lupski, Zeynep Coban Akdemir, Angad Jolly, Claudia M B C Carvalho, Tadahiro Mitani
Publikováno v:
Brain. 143:e83-e83
Autor:
Ross P. White, Christopher E. Anson, Elisha Karu, Gordon J. Kearley, Ahmed K. Saad, Upali A. Jayasooriya, John P. Bourke, Roderick D. Cannon
Publikováno v:
Angewandte Chemie International Edition. 37:317-320
Intrinsic and extrinsic forces behind the distortion in metal atom clusters can be readily distinguished provided that the clusters are embedded in a suitable ligand environment and that the tunneling of the protons in the peripheral ligands is then
Autor:
Elisha Karu, Gordon J. Kearley, Ross P. White, Roderick D. Cannon, Upali A. Jayasooriya, Christopher E. Anson, Ahmed K. Saad, John P. Bourke
Publikováno v:
Angewandte Chemie. 110:331-334
Autor:
Ahmed K. Saad, Ross P. White, Upali A. Jayasooriya, Roderick D. Cannon, Christopher E. Anson, Sam K. arapKoske, Dean Summerfield, Antony B. Blake
Publikováno v:
Journal of the Chemical Society, Dalton Transactions. :2039-2044
Inelastic neutron scattering measurements on the complexes [Cu 4 OCl 6 L 4 ] (L = pyridine or dimethyl sulfoxide) revealed ground-state zero-field splittings of ca. 3 and 6 cm -1 . The splittings are interpreted as due to the combined effects of exch
Autor:
Eric G. Hope, J. Steven Ogden, John H. Holloway, Ahmed K. Saad, William Levason, Alan K. Brisdon, Stuart A. Brewer
Publikováno v:
Journal of Fluorine Chemistry. 60:13-17
Osmium LIII edge extended X-ray absorption fine-structure data have been obtained for the title compounds and refined to give, for OsO3F2, d(OsO)1.70 A and d(OsF) 1.89 and 2.09 A, for K[OsO3F3], d(OsO)1.70 A and d(OsF)1.92 A
Publikováno v:
ChemInform. 23