المؤلفون: Lijuan Huang, Xueqing Bai, Yan Xie, Yunyu Zhou, Jin Wu, Ningdong Li

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: Congenital stationary night blindness, Myopia, Strabismus, Mutation, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/421a031ab3e94f8fbcd32d0159afacb8Test

المؤلفون: Azza A Shehab, Amr A.M Abdelrahman, Marwa Abdelshafy, Randa H.A Abdelgawad, Randa M.A.M El-Mofty

المصدر: Delta Journal of Ophthalmology, Vol 25, Iss 1, Pp 31-36 (2024)

مصطلحات موضوعية: congenital stationary night blindness, electrophysiology, nystagmus, optical coherence tomography, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://www.djo.eg.net/article.asp?issn=1110-9173;year=2024;volume=25;issue=1;spage=31;epage=36;aulast=ShehabTest; https://doaj.org/toc/1110-9173Test; https://doaj.org/toc/2090-4835Test

الوصول الحر: https://doaj.org/article/01668ca4e2794ed491fc216ebc4109ffTest

المؤلفون: Suparmi Suparmi, Harka Prasetya, Atik Rahmawati, Millam Shinta Lailaulaan

المصدر: Frontiers in Medicine, Vol 11 (2024)

مصطلحات موضوعية: vitamin A deficiency, night blindness, education, knowledge, attitudes, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmed.2024.1309837/fullTest; https://doaj.org/toc/2296-858XTest

الوصول الحر: https://doaj.org/article/0038330260d14e52b2a49c903046952bTest

المؤلفون: Dong'e Bai, Ruru Guo, Dandan Huang, Jian Ji, Wei Liu

المصدر: Heliyon, Vol 10, Iss 5, Pp e27039- (2024)

مصطلحات موضوعية: Congenital stationary night blindness, GRM6, Mutation, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844024030706Test; https://doaj.org/toc/2405-8440Test

الوصول الحر: https://doaj.org/article/541536d2d0ca4736abc5d0c09f24859aTest

المؤلفون: Abdilwahid Nuredin, Tamirat Melis, Abdu Oumer Abdu

المصدر: Frontiers in Nutrition, Vol 11 (2024)

مصطلحات موضوعية: bitot’s spots, clinical vitamin A deficiency, conjunctival xerosis, determinants, night blindness, preschool age children, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnut.2024.1267979/fullTest; https://doaj.org/toc/2296-861XTest

الوصول الحر: https://doaj.org/article/efd682c9b51c4b2ca4b53a8491e9531dTest

المؤلفون: Sadeh, Tal

المساهمون: Black, Graeme, Manson, Forbes, Lovell, Simon

مصطلحات موضوعية: Bortezomib, Protein degradation, Treatments, Ubiquitin-proteasome, Channelopathies, Cav1, L-type calcium channels, Incomplete congenital stationary night blindness

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.850648Test

المؤلفون: Tan, JK, Arno, G, Josifova, D, Mohamed, MD, Mahroo, OA

المصدر: Documenta Ophthalmologica (2024) (In press).

مصطلحات موضوعية: Cone dysfunction, Congenital stationary night blindness, Photoreceptors, Retina

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10186009/1/CABP4_Case_Report.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10186009Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10186009/1/CABP4_Case_Report.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10186009Test/

المؤلفون: Thomas Heigl, Michael A. Netzer, Lucia Zanetti, Matthias Ganglberger, Monica L. Fernández-Quintero, Alexandra Koschak

المصدر: Channels, Vol 17, Iss 1 (2023)

مصطلحات موضوعية: L-type calcium channels, Cav1.4, calcium channelopathies, voltage sensor, congenital stationary night blindness type 2, Therapeutics. Pharmacology, RM1-950, Physiology, QP1-981

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1933-6950Test; https://doaj.org/toc/1933-6969Test

الوصول الحر: https://doaj.org/article/ef2b99a0abab4d838bb79811b9811fd5Test

المؤلفون: Komachali, Sajad Rafiee¹ rafiee_sajjad@yahoo.com, Siahpoosh, Zakieh zakieh_siahpoosh@yaho.com, Salehi, Mansoor² M_salehi@med.mui.ac.ir

المصدر: Journal of Epigenetics. Winter2022, Vol. 3 Issue 1, p1-6. 6p.

مصطلحات موضوعية: *RETINITIS pigmentosa, *NIGHT blindness, *HEREDITY, *BLINDNESS, *GENES

المؤلفون: Sallah, Shalaw

المساهمون: Black, Graeme, Lovell, Simon

مصطلحات موضوعية: in-frame indel variants, CACNA1F, congenital stationary night blindness, variant interpretation, beta gamma crystallins, variant of unknown significance, clinical diagnostics, personalised medicine, protein structure, protein-specific, in silico prediction, bioinformatics, missense variant prediction, computational method, homology modelling, gene-specific, structural biology, computational biology, X-linked genes, machine learning

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.873746Test