Search Results - Stuart Ingram
- Showing 1 - 3 results of 3
-
1
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders by Eva Lenassi, Jill Clayton‐Smith, Sofia Douzgou, Simon Ramsden, Stuart Ingram, Georgina Hall, Claire Hardcastle, Tracy Fletcher, Rachel L. Taylor, Jamie M. Ellingford, William D. Newman, Cecilia Fenerty, Vinod Sharma, Iva Lloyd, Susmito Biswas, Jane Ashworth, Graeme Black, Panagiotis I. Sergouniotis
Published 2019Artigo -
2
Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement by Mohammed E. El‐Asrag, Panagiotis I. Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, Declan J. McKeefry, Kristof Van Schil, James A. Poulter, Colin A. Johnson, Ian Carr, Bart P. Leroy, Elfride De Baere, Chris F. Inglehearn, Andrew R. Webster, Carmel Toomes, Manir Ali, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Simon Ramsden, Forbes D.C. Manson, Alison J. Hardcastle, Michel Michaelides, Michael E. Cheetham, Gavin Arno, Niclas Thomas, Shomi S. Bhattacharya, Tony Moore, Andrea H. Németh, Susan M. Downes, Stefano Lise, Emma Lord
Published 2015Artigo -
3
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa by Gavin Arno, Smriti A. Agrawal, Aiden Eblimit, James Bellingham, Mingchu Xu, Feng Wang, Christina Chakarova, David A. Parfitt, Amelia Lane, Thomas Burgoyne, Sarah Hull, Keren Carss, Alessia Fiorentino, Matthew Hayes, Peter Munro, Ralph Nicols, Nikolas Pontikos, Graham E. Holder, Chinwe Asomugha, F. Lucy Raymond, Anthony T. Moore, Vincent Plagnol, Michel Michaelides, Alison J. Hardcastle, Yumei Li, Catherine A. Cukras, Andrew R. Webster, Michael E. Cheetham, Rui Chen, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Forbes D.C. Manson, Panagiotis I. Sergouniotis, Chris F. Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James A. Poulter, Kamron Khan, Emma Lord, Andrea H. Németh, Susan M. Downes, Jing Yu, Stefano Lise, Gavin Arno, Alessia Fiorentino, Nikos Ponitkos, Vincent Plagnol, Michel Michaelides, Alison J. Hardcastle, Michael E. Cheetham, Andrew R. Webster, Veronica van Heyningen
Published 2016Artigo
Search Tools:
Related Subjects
Biology
Gene
Genetics
Mutation
Biochemistry
Exon
Frameshift mutation
Proband
Retinal
Retinal degeneration
Anatomy
Cataracts
Cohort
Compound heterozygosity
Disease gene identification
Dysgenesis
Dystrophy
Etiology
Exome
Exome sequencing
Genetic testing
Internal medicine
Medicine
Missense mutation
Ophthalmology
Pathology
Pediatrics
Retinitis pigmentosa
Sanger sequencing
Visual phototransduction