Zobrazeno 1 - 10
of 934
pro vyhledávání: '"Daiger, S."'
Autor:
Spurr, N, Blanton, S, Bookstein, R, Clarke, R, Cottingham, R, Daiger, S, Drayna, D, Faber, P, Horrigan, S, Kas, K, Kirchgessner, C, Kumar, S, Leach, R, Luedecke, H, Nakamura, Y, Pebusque, M, Ranta, S, Sim, E, Sullivan, L, Takle, L, Vance, J, Wagner, M, Wells, D, Westbrook, C, Yaremko, L
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1064::8b18965e26a3a6cd3a8857a5790af5b0
https://ora.ox.ac.uk/objects/uuid:4fa8746e-1763-4c6e-acb1-fe7657624a7d
https://ora.ox.ac.uk/objects/uuid:4fa8746e-1763-4c6e-acb1-fe7657624a7d
Autor:
Gong, Xiaoming1,2 (AUTHOR) rhertle@akronchildrens.org, Hertle, Richard W.1,2 (AUTHOR)
Publikováno v:
Life (2075-1729). Nov2024, Vol. 14 Issue 11, p1356. 25p.
Autor:
Zhang, Xiaoli1 (AUTHOR), Yao, Shun2,3 (AUTHOR), Zhang, Lujia1 (AUTHOR), Zhang, Beisi2 (AUTHOR), Yang, Mingzhu2 (AUTHOR), Guo, Qingge2 (AUTHOR), Xu, Jin2,3 (AUTHOR), Wang, Zhongfeng1,4 (AUTHOR), Lei, Bo2,3 (AUTHOR) bolei99@126.com, Jin, Xiuxiu1,3 (AUTHOR) jinxiuxiu@zzu.edu.cn
Publikováno v:
FASEB Bioadvances. Nov2024, Vol. 6 Issue 11, p555-564. 10p.
Autor:
Fabian‐Morales, Gerardo E.1 (AUTHOR), Ordoñez‐Labastida, Vianey1,2,3 (AUTHOR), Garcia‐Martínez, Froylan1 (AUTHOR), Montes‐Almanza, Luis1 (AUTHOR), Zenteno, Juan C.1,2,4 (AUTHOR) jczenteno@institutodeoftalmologia.org
Publikováno v:
Molecular Genetics & Genomic Medicine. Oct2024, Vol. 12 Issue 10, p1-10. 10p.
Autor:
Di Iorio, Enzo1,2 (AUTHOR), Adamo, Ginevra Giovanna3 (AUTHOR), Sorrentino, Ugo2,4 (AUTHOR), De Nadai, Katia3,5 (AUTHOR), Barbaro, Vanessa6 (AUTHOR), Mura, Marco3,7 (AUTHOR), Pellegrini, Marco3 (AUTHOR), Boaretto, Francesca2 (AUTHOR), Tavolato, Marco5 (AUTHOR), Suppiej, Agnese5,8 (AUTHOR), Nasini, Francesco9 (AUTHOR), Salviati, Leonardo2,4 (AUTHOR), Parmeggiani, Francesco3,5 (AUTHOR) francesco.parmeggiani@unife.it
Publikováno v:
Scientific Reports. 8/10/2024, Vol. 14 Issue 1, p1-9. 9p.
Autor:
Lei, Zhang1 (AUTHOR), He‐Lin, Zhu1 (AUTHOR), Hai‐Yan, Wang1 (AUTHOR) haiyanwang@med.nwu.edu.cn, Wei, Jia1 (AUTHOR), Ru, Wang1 (AUTHOR), Zhi‐Li, Cui1 (AUTHOR), Qian‐Feng, Wang2 (AUTHOR)
Publikováno v:
Molecular Genetics & Genomic Medicine. Jun2024, Vol. 12 Issue 6, p1-8. 8p.
Retinitis pigmentosa is the name given to a heterogeneous group of hereditary retinal degenerations characterized by progressive visual field loss, pigmentary changes of the retina, abnormal electroretinograms, and, frequently, night blindness. In th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e2d3dcdda14064613e46f1b5d9e50883
https://europepmc.org/articles/PMC1801245/
https://europepmc.org/articles/PMC1801245/
Autor:
SPURR, N, BLANTON, S, BOOKSTEIN, R, CLARKE, R, COTTINGHAM, R, DAIGER, S, DRAYNA, D, FABER, P, HORRIGAN, S, KAS, K, KIRCHGESSNER, C, KUMAR, S, LEACH, R, LUEDECKE, H, NAKAMURA, Y, PEBUSQUE, M, RANTA, S, SIM, E, SULLIVAN, L, TAKLE, L, VANCE, J, WAGNER, M, WELLS, D, WESTBROOK, C, YAREMKO, L, ZALETAYEV, D, ZUFFARDI, O, WOOD, S
Publikováno v:
CYTOGENETICS AND CELL GENETICS. 68(3-4)
Akademický článek
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Autor:
Northrup, H., Kwiatkowski, D. J., Roach, E. S., William Dobyns, Lewis, R. A., Herman, G. E., Rodriguez Jr, E., Daiger, S. P., Blanton, S. H.
Publikováno v:
Scopus-Elsevier
Linkage of tuberous sclerosis complex (TSC), an autosomal dominant disorder, to markers on chromosome 9 was reported first in 1987. This assignment was confirmed by an international collaborative study that suggested more than one locus may be respon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c05732c974eb4e0d34875884bca4ad0c
https://europepmc.org/articles/PMC1682771/
https://europepmc.org/articles/PMC1682771/