Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Orten, D. J."'
Autor:
Orten, D. J., Weston, M. D., Kelley, P. M., Cremers, C. W., Wagenaar, M., Samuel Jacobson, Kimberling, W. J.
Publikováno v:
Human Mutation, 15, 114-115
Human Mutation, 15, 1, pp. 114-115
Scopus-Elsevier
Human Mutation, 15, 1, pp. 114-115
Scopus-Elsevier
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::57d2e870dd586cebfdc3e26d7fb37da9
http://hdl.handle.net/2066/144742
http://hdl.handle.net/2066/144742
Autor:
Western, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T., Chen, Z. -Y, Corey, D., Mooseker, M., Sumegi, J., Cremers, C., Möller, C., Samuel Jacobson, Gorin, M. B., Kimberling, W. J.
Publikováno v:
Scopus-Elsevier
Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been shown to be caused by mutations in the myosin VIIa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ccd75f41c6ab940575e3ff7e1b343944
https://europepmc.org/articles/PMC1914835/
https://europepmc.org/articles/PMC1914835/
Publikováno v:
Archives of Virology; March 1992, Vol. 122 Issue: 1-2 p163-173, 11p
Publikováno v:
Molecular and Cellular Biology; June 1994, Vol. 14 Issue: 6 p4233-4243, 11p
Autor:
Dörje, Nele Marie, Shvachiy, Liana, Kück, Fabian, Outeiro, Tiago F., Strenzke, Nicola, Beutner, Dirk, Setz, Cristian
Publikováno v:
Frontiers in Cellular Neuroscience; 2024, p1-16, 16p
Autor:
Yalcouyé, Abdoulaye1,2 (AUTHOR), Traoré, Oumou2 (AUTHOR), Diarra, Salimata2,3 (AUTHOR), Schrauwen, Isabelle4 (AUTHOR), Esoh, Kevin1 (AUTHOR), Kadlubowska, Magda Kamila4 (AUTHOR), Bharadwaj, Thashi4 (AUTHOR), Adadey, Samuel Mawuli1 (AUTHOR), Kéita, Mohamed2,5 (AUTHOR), Guinto, Cheick O.2,6 (AUTHOR), Leal, Suzanne M.4,7 (AUTHOR), Landouré, Guida2,3,6 (AUTHOR), Wonkam, Ambroise1,8 (AUTHOR) ambroise.wonkam@uct.ac.za
Publikováno v:
Molecular Genetics & Genomic Medicine. Jul2022, Vol. 10 Issue 7, p1-8. 8p.
Autor:
Said, Mariem Ben1 (AUTHOR) mariem.bensaid@cbs.rnrt.tn, Ayed, Ikhlas Ben1,2 (AUTHOR), Elloumi, Ines1 (AUTHOR), Hasnaoui, Mehdi3 (AUTHOR), Souissi, Amal1 (AUTHOR), Idriss, Nabil3 (AUTHOR), Aloulou, Hajer4 (AUTHOR), Chabchoub, Imen4 (AUTHOR), Maâlej, Bayen4 (AUTHOR), Driss, Dorra1 (AUTHOR), Masmoudi, Saber1 (AUTHOR)
Publikováno v:
Molecular Genetics & Genomic Medicine. Feb2022, Vol. 10 Issue 2, p1-18. 18p.
Publikováno v:
Frontiers in Genetics; 2024, p1-8, 8p
Autor:
Wu, Di1 (AUTHOR), Huang, Weiyuan1 (AUTHOR), Xu, Zhenhang2 (AUTHOR), Li, Shuo1 (AUTHOR), Zhang, Jie1 (AUTHOR), Chen, Xiaohua3 (AUTHOR), Tang, Yan1 (AUTHOR), Qiu, Jinhong1 (AUTHOR), Wang, Zhixia1 (AUTHOR), Duan, Xuchu4 (AUTHOR), Zhang, Luping1 (AUTHOR) zhanglp910@126.com
Publikováno v:
Molecular Genetics & Genomic Medicine. Apr2020, Vol. 8 Issue 4, p1-8. 8p.
Autor:
Hu, Songqun1, Sun, Feifei1, Zhang, Jie1, Tang, Yan1, Qiu, Jinhong1, Wang, Zhixia1, Zhang, Luping1
Publikováno v:
Neural Plasticity. 7/5/2018, p1-7. 7p.