المؤلفون: Milibari, Doaa, Magliyah, Moustafa, Semidey, Valmore A., Schatz, Patrik, Albalawi, Hani B.

المصدر: Clinics and Practice. 12(4):491-500

مصطلحات موضوعية: AGBL5, ciliopathy, ffERG, retinal dystrophy, RPGR, URP, Medicin och hälsovetenskap, Klinisk medicin, Oftalmologi, Medical and Health Sciences, Clinical Medicine, Ophthalmology

URL الوصول: https://lup.lub.lu.se/record/50d1e9ee-a363-4b2b-aa4d-27714ce3e16f
http://dx.doi.org/10.3390/clinpract12040053

المؤلفون: Pei-Liang Wu, Pei-Hsuan Lin, Winston Lee, Ethan Hung-Hsi Wang, Eugene Yu-Chuan Kang, Laura Liu, Nan-Kai Wang

المصدر: American Journal of Ophthalmology Case Reports, Vol 36, Iss , Pp 102094- (2024)

مصطلحات موضوعية: Cone-rod dystrophy (CORD), GUCY2D, Full field electroretinography (ffERG), Electronegative ERG, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S245199362400104X; https://doaj.org/toc/2451-9936

URL الوصول: https://doaj.org/article/43287b412b3d44e28a593f7169965e8b

المؤلفون: Orsini, Alessandro, Ferrari, Daniele, Riva, Antonella^{Aff3, Aff4}, Santangelo, Andrea, Macrì, Angelo, Freri, Elena, Canafoglia, Laura, D’Aniello, Alfredo, Di Gennaro, Giancarlo, Massimetti, Gabriele, Minetti, Carlo, Zara, Federico, Michelucci, Roberto, Tumber, Anupreet, Vincent, Ajoy, Minassian, Berge Arakel, Striano, Pasquale^{Aff3, Aff4, IDs00415022109747_cor17}

المصدر: Journal of Neurology. 269(7):3597-3604

المؤلفون: Doaa Milibari, Moustafa Magliyah, Valmore A. Semidey, Patrik Schatz, Hani B. ALBalawi

المصدر: Clinics and Practice, Vol 12, Iss 4, Pp 491-500 (2022)

مصطلحات موضوعية: URP, ffERG, retinal dystrophy, AGBL5, RPGR, ciliopathy, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2039-7283/12/4/53; https://doaj.org/toc/2039-7283

URL الوصول: https://doaj.org/article/3cc3b1b2f1f142d2b016ca4ac9eba5a7

المؤلفون: Zeitz, Christina^Aff4, Varin, Juliette^Aff4, Audo, Isabelle^{Aff4, Aff5, Aff6}

المساهمون: Singh, Arun D., Series Editor^Aff1, Prakash, Gyan, editor^Aff2, Iwata, Takeshi, editor^Aff3

المصدر: Advances in Vision Research, Volume III : Genetic Eye Research around the Globe. :139-152

المؤلفون: Rosli, Saiful Azlan, Chen, Ai-Hong, Ismail, Abdul Hakim

المصدر: 2014 IEEE Conference on Biomedical Engineering and Sciences (IECBES) Biomedical Engineering and Sciences (IECBES), 2014 IEEE Conference on. :757-759 Dec, 2014

Relation: 2014 IEEE Conference on Biomedical Engineering and Sciences (IECBES)

المؤلفون: Małgorzata Sobolewska, Marta Świerczyńska, Mariola Dorecka, Dorota Wyględowska-Promieńska, Maciej R. Krawczyński, Ewa Mrukwa-Kominek

المصدر: Medicina, Vol 59, Iss 2, p 399 (2023)

مصطلحات موضوعية: cone–rod dystrophy, CRD, CDHR1 gene, ffERG, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1648-9144/59/2/399; https://doaj.org/toc/1010-660X; https://doaj.org/toc/1648-9144

URL الوصول: https://doaj.org/article/1b2f7f5a182f48b0aa5711294753182b

المؤلفون: Alessandro Orsini, Daniele Ferrari, Antonella Riva, Andrea Santangelo, Angelo Macrì, Elena Freri, Laura Canafoglia, Alfredo D’Aniello, Giancarlo Di Gennaro, Gabriele Massimetti, Carlo Minetti, Federico Zara, Roberto Michelucci, Anupreet Tumber, Ajoy Vincent, Berge Arakel Minassian, Pasquale Striano

المصدر: Journal of Neurology. 269:3597-3604

مصطلحات موضوعية: Ubiquitin-Protein Ligases, Retinal alterations, Myoclonic Epilepsies, Progressive, Protein Tyrosine Phosphatases, Non-Receptor, FFERG, Lafora disease, Neurodegeneration, Progressive myoclonus, Phenotype, Neurology, Mutation, Humans, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37f74cedeca03f986940aa659af2bafc
https://doi.org/10.1007/s00415-022-10974-7

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.