Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Nathaniel Kabiri"'
Autor:
Sagnik Sen, Michel Michaelides, Andrew R Webster, Konstantinos Balaskas, Kaoru Fujinami, Manuel Gomes, Nikolas Pontikos, Susan M Downes, Malena Daich Varela, Omar A Mahroo, Thales Antonio Cabral de Guimaraes, Stephen Archer, Gavin Arno, Mital Shah, Savita Madhusudhan, Quang Nguyen, William Woof, Nathaniel Kabiri, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Jennifer Furman
Publikováno v:
BMJ Open, Vol 13, Iss 3 (2023)
Introduction Inherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes have been found to be associated with IRDs and identifying the affected gene in patients b
Externí odkaz:
https://doaj.org/article/5945d6aef20f41bfa056c55a51aabb6a
Autor:
Malena Daich Varela, Sagnik Sen, Thales Antonio Cabral De Guimaraes, Nathaniel Kabiri, Nikolas Pontikos, Konstantinos Balaskas, Michel Michaelides
Publikováno v:
Graefe's Archive for Clinical and Experimental Ophthalmology.
Retinal diseases are a leading cause of blindness in developed countries, accounting for the largest share of visually impaired children, working-age adults (inherited retinal disease), and elderly individuals (age-related macular degeneration). Thes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7fa7b3ed87792b795db239b74aea637d
https://doi.org/10.1007/s00417-023-06052-x
https://doi.org/10.1007/s00417-023-06052-x
Autor:
Nikolas Pontikos, William Woof, Advaith Veturi, Behnam Javanmardi, Miguel Ibarra-Arellano, Alexander Hustinx, Ismail Moghul, Yichen Liu, Kristina Heß, Michalis Georgiou, Maximilian Pfau, Mital Shah, Jing Yu, Saoud Al-Khuzaei, Siegfried Wagner, Malena Daich Varela, Thales Cabral de Guimarães, Sagnik Sen, Nathaniel Kabiri, Quang Nguyen, Jennifer Furman, Bart Liefers, Aaron Lee, Samantha De Silva, Caio Texeira, Fabiana Motta, Yu Fujinami-Yokokawa, Gavin Arno, Kaoru Fujinami, Juliana Sallum, Savita Madhusudhan, Susan Downes, Frank Holz, Konstantinos Balaskas, Andrew Webster, Omar Mahroo, Peter Krawitz, Michel Michaelides
Rare eye diseases such as inherited retinal diseases (IRDs) are challenging to diagnose genetically. IRDs are typically monogenic disorders and represent a leading cause of blindness in children and working-age adults worldwide. A growing number are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::984dbc3b763aed3cdc1f03becb82400b
https://doi.org/10.21203/rs.3.rs-2110140/v1
https://doi.org/10.21203/rs.3.rs-2110140/v1
Autor:
Quang Nguyen, William Woof, Nathaniel Kabiri, Sagnik Sen, Malena Daich Varela, Thales Antonio Cabral De Guimaraes, Mital Shah, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Stephen Archer, Jennifer Furman, Gavin Arno, Manuel Gomes, Kaoru Fujinami, Savita Madhusudhan, Omar A Mahroo, Andrew R Webster, Konstantinos Balaskas, Susan M Downes, Michel Michaelides, Nikolas Pontikos
Publikováno v:
BMJ Open. 13:e071043
IntroductionInherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes have been found to be associated with IRDs and identifying the affected gene in patients by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2703f37fde21227e0601cf0bae0488a8
https://doi.org/10.1136/bmjopen-2022-071043
https://doi.org/10.1136/bmjopen-2022-071043