المؤلفون: Jahangir Khan, Saaim Asif, Shamsul Ghani, Hamid Khan, Muhammad Waqar Arshad, Shujaat Ali khan, Siying Lin, Emma L. Baple, Claire Salter, Andrew H. Crosby, Lettie Rawlins, Muhammad Imran Shabbir

المصدر: BMC Ophthalmology, Vol 24, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: TYR, OCA2, HPS1, Exome sequencing, Oculocutaneous albinism, Nystagmus, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2415

URL الوصول: https://doaj.org/article/1f2a6f943b6b41709e1728667e70634f

المؤلفون: Joseph S. Leslie, Rim Hjeij, Asaf Vivante, Elizabeth A. Bearce, Laura Dyer, Jiaolong Wang, Lettie Rawlins, Joanna Kennedy, Nishanka Ubeyratna, James Fasham, Zoe H. Irons, Samuel B. Craig, Julia Koenig, Sebastian George, Ben Pode-Shakked, Yoav Bolkier, Ortal Barel, Shrikant Mane, Kathrine K. Frederiksen, Olivia Wenger, Ethan Scott, Harold E. Cross, Esben Lorentzen, Dominic P. Norris, Yair Anikster, Heymut Omran, Daniel T. Grimes, Andrew H. Crosby, Emma L. Baple

المصدر: Leslie, J S, Hjeij, R, Vivante, A, Bearce, E A, Dyer, L, Wang, J, Rawlins, L, Kennedy, J, Ubeyratna, N, Fasham, J, Irons, Z H, Craig, S B, Koenig, J, George, S, Pode-Shakked, B, Bolkier, Y, Barel, O, Mane, S, Frederiksen, K K, Wenger, O, Scott, E, Cross, H E, Lorentzen, E, Norris, D P, Anikster, Y, Omran, H, Grimes, D T, Crosby, A H & Baple, E L 2022, ' Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities ', Genetics in Medicine, vol. 24, no. 11, pp. 2249-2261 . https://doi.org/10.1016/j.gim.2022.07.019

مصطلحات موضوعية: Motile cilia, Axoneme, Proteins, Ciliopathies, Left-right asymmetry, DAW1, Mice, Primary ciliary dyskinesia, Mutation, Humans, Animals, Heterotaxy, Cilia, Genetics (clinical), Zebrafish, Ciliary Motility Disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b3b5514ace8d91203c68da060b7c2d1
https://pubmed.ncbi.nlm.nih.gov/36074124