Search | IOVS | ARVO Journals

Access Provided By:
MIT Libraries

Forgot password?

Create an Account

View

Showing 1 – 9 of 9

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

ARVO Annual Meeting Abstract June 2024

Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration

Grace A Borchert; Morag Shanks; Jennifer Whitfield; Penny Clouston; Shabnam Raji; Sian Sperring; Kanmin Xue; Samantha R De Silva; Susan M Downes; Robert E MacLaren; Jasmina Cehajic Kapetanovic

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4687.

ARVO Annual Meeting Abstract June 2024

A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy

Akshay Narayan; Laura J Taylor; Sian Sperring; Morag Shanks; Penny Clouston; Robert E MacLaren; Jasmina Cehajic Kapetanovic

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5281.

ARVO Annual Meeting Abstract June 2023

Functional outcomes and adverse effects of voretigene neparvovec for biallelic RPE65-mediated inherited retinal dystrophies in a cohort of patients from a single centre

Peter Kiraly; Charles Cottriall; Laura J Taylor; Jasleen K Jolly; Jasmina Cehajic-Kapetanovic; Imran H Yusuf; Cristina Martinez-Fernandez dela Camara; Morag Shanks; Susan M Downes; Robert E MacLaren; Dominik M Fischer

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):801.

ARVO Annual Meeting Abstract June 2022

Bi-allelic inheritance of dominant and recessive RP1 mutations raises challenges for genetic counselling

Tom Buckley; Penny Clouston; Morag Shanks; Jasmina Cehajic Kapetanovic; Robert E MacLaren

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):145 – A0325.

ARVO Annual Meeting Abstract June 2022

Phenotypic appearances in a large ethnically diverse cohort of 178 patients with ABCA4 retinopathy

Saoud Al-khuzaei; Mital Shah; Suzanne Broadgate; Jing Yu; Charlotte R Foster; Jasleen Kaur Jolly; Morag Shanks; Robert E MacLaren; Peter Charbel Issa; Penny Clouston; Stephanie Halford; Susan M. Downes

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):616 – A0331.

ARVO Annual Meeting Abstract June 2021

Genotype-phenotype correlation of novel variants in ABCA4

Saoud Al-khuzaei; Charlotte Foster; Suzanne Broadgate; Mital shah; Morag Shanks; Robert E MacLaren; Peter Charbel Issa; Penny Clouston; Stephanie Halford; Susan M Downes

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1545.

ARVO Annual Meeting Abstract July 2019

Retinitis pigmentosa caused by variants in SNRNP200

Imran H Yusuf; Johannes Birtel; Morag Shanks; Penny Clouston; Susan M. Downes; Peter Charbel Issa; Robert E MacLaren

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4519.

ARVO Annual Meeting Abstract July 2018

Usher genes; from a clinical and genetic perspective

Helena Margaret Anthonia Feenstra; Mital Shah; Morag Shanks; Robert E MacLaren; Penny Clouston; Susan Downes

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2341.

ARVO Annual Meeting Abstract July 2018

The spectrum of RP1 mutations confirms a dominant negative disease mechanism

Anika Nanda; Michelle McClements; Morag Shanks; Robert MacLaren

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2329.

Advertisement