-
1دورية أكاديمية
المؤلفون: Jose S Pulido, Mandeep S Sagoo, Omar A Mahroo, Alexander Tanner
المصدر: BMJ Open Ophthalmology, Vol 9, Iss 1 (2024)
مصطلحات موضوعية: Ophthalmology, RE1-994
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: 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
المصدر: BMJ Open, Vol 13, Iss 3 (2023)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Hannah Currant, Tomas W Fitzgerald, Praveen J Patel, Anthony P Khawaja, UK Biobank Eye and Vision Consortium, Andrew R Webster, Omar A Mahroo, Ewan Birney
المصدر: PLoS Genetics, Vol 19, Iss 2, p e1010587 (2023)
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Xiaofan Jiang, Pirro G Hysi, Anthony P Khawaja, Omar A Mahroo, Zihe Xu, Christopher J Hammond, Paul J Foster, Roshan A Welikala, Sarah A Barman, Peter H Whincup, Alicja R Rudnicka, Christopher G Owen, David P Strachan, UK Biobank Eye and Vision Consortium
المصدر: PLoS Genetics, Vol 19, Iss 2, p e1010583 (2023)
وصف الملف: electronic resource
-
5دورية أكاديمية
المؤلفون: Jose S Pulido, Omar A Mahroo, Hwei Wuen Chan, Alexander Tanner, Elena Schiff
المصدر: BMJ Open Ophthalmology, Vol 7, Iss 1 (2022)
مصطلحات موضوعية: Ophthalmology, RE1-994
وصف الملف: electronic resource
-
6دورية أكاديمية
المؤلفون: Karina Patasova, Annechien E G Haarman, Anthony M Musolf, Omar A Mahroo, Jugnoo S Rahi, Mario Falchi, Virginie J M Verhoeven, Joan E Bailey-Wilson, Caroline C W Klaver, Priya Duggal, Alison Klein, Jeremy A Guggenheim, Chris J Hammond, Pirro G Hysi, CREAM Consortium; the UK Biobank Eye; Vision Consortium
المصدر: PLoS ONE, Vol 17, Iss 9, p e0272379 (2022)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1932-6203Test
-
7دورية أكاديمية
المؤلفون: Katie M Williams, Pirro G Hysi, Christopher J Hammond, Omar A Mahroo, Xiaofan Jiang, Taha Bhatti, Ambreen Tariq, Isabelle Chow, Talib Dar
المصدر: BMJ Open Ophthalmology, Vol 6, Iss 1 (2021)
مصطلحات موضوعية: Ophthalmology, RE1-994
وصف الملف: electronic resource
-
8دورية أكاديمية
المؤلفون: Patricio G. Schlottmann, José D. Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P. Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E. Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M. Martin, Gerardo Juan Ormaechea, M. Eugenia Inga, Aníbal A. Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J. Nuova, Ivana B. Canonero, Omar A. Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Varela
المصدر: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-9 (2023)
العلاقة: https://doi.org/10.1038/s41525-023-00352-1Test; https://doaj.org/toc/2056-7944Test; https://doaj.org/article/a4196dab4d534e369ef825091e1bfe14Test
الإتاحة: https://doi.org/10.1038/s41525-023-00352-1Test
https://doaj.org/article/a4196dab4d534e369ef825091e1bfe14Test -
9دورية أكاديميةBiallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
المؤلفون: Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina HZ Li, Robert A Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B Haack, Katarina Stingl, Carel B Hoyng, Omar A Mahroo, Iain Hargreaves, F Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R Webster, Gavin Arno
مصطلحات موضوعية: Uncategorized, Genetics & Heredity, COQ10 DEFICIENCY, Q(10), MUTATIONS, ENCEPHALOMYOPATHY, NEPHROPATHY, DISORDER
-
10دورية أكاديمية
المؤلفون: Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
مصطلحات موضوعية: Science
العلاقة: https://doi.org/10.1038/s41467-022-33820-wTest; https://doaj.org/toc/2041-1723Test; https://doaj.org/article/a85ce5f9aafc4ed1a65a7a9f8a648d61Test
الإتاحة: https://doi.org/10.1038/s41467-022-33820-wTest
https://doaj.org/article/a85ce5f9aafc4ed1a65a7a9f8a648d61Test