E-LIB Suche - Ergebnisse für: Nash, Benjamin M.

1

Retinal Dystrophies Associated With Peripherin-2: Genetic S..:

Heath Jeffery, Rachael C. ; Thompson, Jennifer A. ; Lo, Johnny...
Investigative Ophthalmology & Visual Science. 65 (2024) 5 - p. 22 , 2024

Link: https://doi.org/10.1167/..

2

Early recognition of CLN3 disease facilitated by visual ele..:

Sakti, Dhimas H. ; Cornish, Elisa E. ; Fraser, Clare L....
Documenta Ophthalmologica. 146 (2023) 3 - p. 241-256 , 2023

Link: https://doi.org/10.1007/..

3

IMPDH1-associated autosomal dominant retinitis pigmentosa: ..:

Sakti, Dhimas H. ; Cornish, Elisa E. ; Nash, Benjamin M...
Ophthalmic Genetics. 44 (2023) 5 - p. 437-455 , 2023

Link: https://doi.org/10.1080/..

4

Whole Genome Sequencing, Focused Assays and Functional Stud..:

Nash, Benjamin M. ; Ma, Alan ; Ho, Gladys...
International Journal of Molecular Sciences. 23 (2022) 7 - p. 3905 , 2022

Link: https://doi.org/10.3390/..

5

Human iPSC-Derived Retinal Organoids and Retinal Pigment Ep..:

Chahine Karam, Fidelle ; Loi, To Ha ; Ma, Alan...
Journal of Personalized Medicine. 12 (2022) 3 - p. 502 , 2022

Link: https://doi.org/10.3390/..

6

Genome sequencing in congenital cataracts improves diagnost..:

Ma, Alan ; Grigg, John R. ; Flaherty, Maree...
Human Mutation. 42 (2021) 9 - p. 1173-1183 , 2021

Link: https://doi.org/10.1002/..

7

Evaluation for Retinal Therapy for RPE65 Variation Assessed..:

Nash, Benjamin M. ; Loi, To Ha ; Fernando, Milan...
Stem Cells International. 2021 (2021) - p. 1-12 , 2021

Link: https://doi.org/10.1155/..

8

Heterozygous COL9A3 variants cause severe peripheral vitreo..:

Nash, Benjamin M. ; Watson, Christopher J. G. ; Hughes, Edward...
European Journal of Human Genetics. 29 (2021) 5 - p. 881-886 , 2021

Link: https://doi.org/10.1038/..

9

Genetic Variants and Impact in PDE6B Rod-Cone Dystrophy:

, In: Essentials in Ophthalmology; Advances in Vision Research, Volume III,

Watson, Christopher J. G. ; Nash, Benjamin M. ; Loi, To Ha.. - p. 197-206 , 2021

Link: https://doi.org/10.1007/..

10

Revealing hidden genetic diagnoses in the ocular anterior s..:

Ma, Alan ; Yousoof, Saira ; Grigg, John R....
Genetics in Medicine. 22 (2020) 10 - p. 1623-1632 , 2020

Link: https://doi.org/10.1038/..

11

Nemaline myopathy and distal arthrogryposis associated with..:

Sandaradura, Sarah A. ; Bournazos, Adam ; Mallawaarachchi, Amali...
Human Mutation. 39 (2018) 3 - p. 383-388 , 2018

Link: https://doi.org/10.1002/..

12

NMNAT1 variants cause cone and cone-rod dystrophy:

Nash, Benjamin M. ; Symes, Richard ; Goel, Himanshu...
European Journal of Human Genetics. 26 (2017) 3 - p. 428-433 , 2017

Link: https://doi.org/10.1038/..

13

Early recognition of CLN3 disease facilitated by visual ele..:

Sakti, Dhimas H ; Cornish, Elisa E ; Fraser, Clare L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10256658/. , 2023

Link: http://www.ncbi.nlm.nih...

14

Whole Genome Sequencing, Focused Assays and Functional Stud..:

Nash, Benjamin M ; Ma, Alan ; Ho, Gladys...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8999823/. , 2022

Link: http://www.ncbi.nlm.nih...

15

Heterozygous COL9A3 variants cause severe peripheral vitreo..:

Nash, Benjamin M ; Watson, Christopher J. G ; Hughes, Edward...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110976/. , 2021

Link: http://www.ncbi.nlm.nih...