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Martin McKibbin

Showing results (31-40 of 106) with videos related to

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Molecular Vision|November 4, 2008
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degenerationManir Ali, Vedam Lakshmi Ramprasad, Nagasamy Soumittra, et al.
Molecular Vision|March 13, 2008
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosisVedam Lakshmi Ramprasad, Nagasamy Soumittra, Derek Nancarrow, et al.
Prenatal Diagnosis|July 2, 2015
Patient attitudes towards prenatal diagnostic testing for inherited retinal diseaseKhuram Ahmed, Mushtaq Ahmed, Barbara Potrata, et al.
Ophthalmology. Retina|January 3, 2024
Improved Structure and Function in Early-Detected Second-Eye Neovascular Age-Related Macular Degeneration: FASBAT/Early Detection of Neovascular Age-Related Macular Degeneration Report 1Richard P Gale, Archana Airody, Sobha Sivaprasad, et al.
Molecular Vision|June 13, 2022
Novel homozygous mutations in the transcription factor <i>NRL</i> cause non-syndromic retinitis pigmentosaMohammed E El-Asrag, Marta Corton, Martin McKibbin, et al.
Molecular Genetics & Genomic Medicine|March 19, 2023
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategiesBenjamin McClinton, Laura A Crinnion, Martin McKibbin, et al.
The British Journal of Ophthalmology|April 1, 2016
UK Neovascular Age-Related Macular Degeneration Database. Report 6: time to retreatment after a pause in therapy. Outcomes from 92 976 intravitreal ranibizumab injectionsKrishnappa C Madhusudhana, Aaron Y Lee, Pearse A Keane, et al.
Plos One|August 23, 2012
Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotypeIan M Carr, Christine P Diggle, Kamron Khan, et al.
JAMA Ophthalmology|December 27, 2014
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosaElia Shevach, Manir Ali, Liliana Mizrahi-Meissonnier, et al.
JAMA Ophthalmology|July 9, 2016
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular DystrophySarah Hull, Gavin Arno, Anthony G Robson, et al.
Pageof 11

Showing results (31-40 of 106) with videos related to

Sort By:
Pageof 11
Molecular Vision|November 4, 2008
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degenerationManir Ali, Vedam Lakshmi Ramprasad, Nagasamy Soumittra, et al.
Molecular Vision|March 13, 2008
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosisVedam Lakshmi Ramprasad, Nagasamy Soumittra, Derek Nancarrow, et al.
Prenatal Diagnosis|July 2, 2015
Patient attitudes towards prenatal diagnostic testing for inherited retinal diseaseKhuram Ahmed, Mushtaq Ahmed, Barbara Potrata, et al.
Ophthalmology. Retina|January 3, 2024
Improved Structure and Function in Early-Detected Second-Eye Neovascular Age-Related Macular Degeneration: FASBAT/Early Detection of Neovascular Age-Related Macular Degeneration Report 1Richard P Gale, Archana Airody, Sobha Sivaprasad, et al.
Molecular Vision|June 13, 2022
Novel homozygous mutations in the transcription factor <i>NRL</i> cause non-syndromic retinitis pigmentosaMohammed E El-Asrag, Marta Corton, Martin McKibbin, et al.
Molecular Genetics & Genomic Medicine|March 19, 2023
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategiesBenjamin McClinton, Laura A Crinnion, Martin McKibbin, et al.
The British Journal of Ophthalmology|April 1, 2016
UK Neovascular Age-Related Macular Degeneration Database. Report 6: time to retreatment after a pause in therapy. Outcomes from 92 976 intravitreal ranibizumab injectionsKrishnappa C Madhusudhana, Aaron Y Lee, Pearse A Keane, et al.
Plos One|August 23, 2012
Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotypeIan M Carr, Christine P Diggle, Kamron Khan, et al.
JAMA Ophthalmology|December 27, 2014
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosaElia Shevach, Manir Ali, Liliana Mizrahi-Meissonnier, et al.
JAMA Ophthalmology|July 9, 2016
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular DystrophySarah Hull, Gavin Arno, Anthony G Robson, et al.
Pageof 11