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of 1 982
pro vyhledávání: '"624"'
Autor:
S.M. Lwin, S. Solanky, I. Tosi, H. Dawe, J.A. McGrath, C. Giacomini, P. di Meglio, F. Dazzi, C.E. Griffiths
Publikováno v:
Journal of Investigative Dermatology. 143:S107
Autor:
Guggenheim, Jeremy A, Clark, Rosie, Cui, Jiangtian, Terry, Louise, Patasova, Karina, Haarman, Annechien E.G, Musolf, Anthony M, Verhoeven, Virginie J M, Klaver, Caroline C W, Bailey-Wilson, Joan E, Hysi, Pirro G, Williams, Cathy E M
Publikováno v:
Human Molecular Genetics, 31, 1909-1919
Human Molecular Genetics, 31(11), 1909-1919. Oxford University Press
Guggenheim, J A, Clark, R, Cui, J, Terry, L, Patasova, K, Haarman, A E G, Haarman, A E G, Musolf, A M, Verhoeven, V J M, Klaver, C C W, Klaver, C C W, Bailey-Wilson, J E & Hysi, P G & Williams, C E M 2022, ' Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia ', Human Molecular Genetics, vol. 31, no. 11, ddac004, pp. 1909-1919 . https://doi.org/10.1093/hmg/ddac004
Human Molecular Genetics, 31, 11, pp. 1909-1919
Human Molecular Genetics, 31(11), 1909-1919. Oxford University Press
Guggenheim, J A, Clark, R, Cui, J, Terry, L, Patasova, K, Haarman, A E G, Haarman, A E G, Musolf, A M, Verhoeven, V J M, Klaver, C C W, Klaver, C C W, Bailey-Wilson, J E & Hysi, P G & Williams, C E M 2022, ' Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia ', Human Molecular Genetics, vol. 31, no. 11, ddac004, pp. 1909-1919 . https://doi.org/10.1093/hmg/ddac004
Human Molecular Genetics, 31, 11, pp. 1909-1919
Contains fulltext : 251578.pdf (Publisher’s version ) (Open Access) Refractive errors are associated with a range of pathological conditions, such as myopic maculopathy and glaucoma, and are highly heritable. Studies of missense and putative loss o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f0db72c445ca7bf5fa257787f5ae44
http://hdl.handle.net/2066/251578
http://hdl.handle.net/2066/251578
Publikováno v:
Journal of Investigative Dermatology. 142:S288
Publikováno v:
Journal of Investigative Dermatology. 142:S107
Autor:
K. Bridges, Y. Xing, I. Sidhu, Kathryn Miller-Jensen, Valerie Horsley, S. Naik, Renee R. Wasko
Publikováno v:
Journal of Investigative Dermatology. 141:S108
Publikováno v:
Journal of Investigative Dermatology. 140:S84
Autor:
Jun Omatsu, A. Yoshizaki, Kozo Nakamura, Megumi Hirabayashi, S. Sato, Yuki Fukui, Yoshihide Asano, Satoshi Toyama, Takuya Miyagawa
Publikováno v:
Journal of Investigative Dermatology. 139:S322
Publikováno v:
Journal of Investigative Dermatology. 139:S107
Autor:
Thomas Kukar, Paul Robertson, Todd E. Golde, Barbara A. Cottrell, Karen Jansen-West, Kim Malphrus, Simone Eggert, Pritam Das, Maralyssa Bann, Edward H. Koo, Brenda D. Moore, Hiroko Maruyama, Sean A. Pintchovski, Guriqbal S. Basi, Zhao Ren, Thomas B. Ladd
Publikováno v:
Journal of Biological Chemistry. 286:39804-39812
γ-Secretase is a multiprotein intramembrane cleaving aspartyl protease (I-CLiP) that catalyzes the final cleavage of the amyloid β precursor protein (APP) to release the amyloid β peptide (Aβ). Aβ is the primary component of senile plaques in Al
Autor:
Greg Donahue, A. Anderson, Rizwan Saffie, Brian C. Capell, Shelley L. Berger, Enrique Lin-Shiao, Cory L. Simpson, Luca Busino, Payel Sen, Benjamin A. Garcia, Yemin Lan
Publikováno v:
Journal of Investigative Dermatology. 138:S106