E-LIB Suche - Ergebnisse für: Heon, Elise

1

Scaling up Functional Analyses of the G Protein-Coupled Rec..:

Scott, Benjamin M. ; Chen, Steven K. ; Van Nynatten, Alexander...
Journal of Molecular Evolution. 92 (2024) 1 - p. 61-71 , 2024

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

2

Functional Vision in Patients With Biallelic USH2A Variants:

Heon, Elise ; Melia, Michele ; Bocchino, Laura E....
American Journal of Ophthalmology. 260 (2024) - p. 200-211 , 2024

Link: https://doi.org/10.1016/..

3

Therapies for Inherited Retinal Dystrophies: What is Enough:

Leroy, Bart P. ; Daly, Avril ; Héon, Elise..
Drug Discovery Today. 29 (2024) 9 - p. 104095 , 2024

Link: https://doi.org/10.1016/..

4

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/..

5

Shedding light on myopia by studying complete congenital st..:

Zeitz, Christina ; Roger, Jérome E. ; Audo, Isabelle...
Progress in Retinal and Eye Research. 93 (2023) - p. 101155 , 2023

Link: https://doi.org/10.1016/..

6

Deep phenotypic characterization of the retinal dystrophy i..:

Ballios, Brian G. ; Mandola, Amarilla ; Tayyib, Alaa...
Eye. 37 (2023) 18 - p. 3734-3742 , 2023

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

7

Photoreceptor function and structure in retinal degeneratio..:

Cideciyan, Artur V. ; Jacobson, Samuel G. ; Sumaroka, Alexander...
Vision Research. 203 (2023) - p. 108157 , 2023

Link: https://doi.org/10.1016/..

8

Treatment Strategy With Gene Editing for Late-Onset Retinal..:

Li, Randa T. H. ; Roman, Alejandro J. ; Sumaroka, Alexander...
Investigative Opthalmology & Visual Science. 64 (2023) 15 - p. 33 , 2023

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

9

Genetics of retinal degeneration in 2023:

Héon, Elise ; Vincent, Ajoy ; Tayyib, Alaa
Canadian Eye Care Today. , 2023

Link: https://doi.org/10.58931..

10

Whole genome sequencing for USH2A-associated disease reveal..:

Reurink, Janine ; Weisschuh, Nicole ; Garanto, Alejandro...
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100181 , 2023

Link: https://doi.org/10.1016/..

11

The validation of inherited retinal disease-specific patien..:

Selvan, Kavin ; Abuzaitoun, Rebhi ; Abalem, Maria Fernanda...
Ophthalmic Genetics. 44 (2023) 3 - p. 218-225 , 2023

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

12

Deep intronic variant in MVK as a cause for mevalonic acidu..:

Dvaladze, Anna ; Tavares, Erika ; Di Scipio, Matteo...
Clinical Genetics. 102 (2022) 6 - p. 524-529 , 2022

Link: https://doi.org/10.1111/..

13

ABCA4c.859-25A>G, a Frequent Palestinian Founder Mutatio..:

Corradi, Zelia ; Salameh, Manar ; Khan, Mubeen...
Investigative Opthalmology & Visual Science. 63 (2022) 4 - p. 20 , 2022

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

14

Contributors:

, In: Clinical Ophthalmic Genetics and Genomics,

Aleman, Tomas S. ; Amati-Bonneau, Patrizia ; Arveiler, Benoît... - p. xi-xiv , 2022

Link: https://doi.org/10.1016/..

15

Unilateral cataract and congenital stationary night blindne..:

Saleh, Eman ; Pechhacker, Monika Grudzinska ; Vig, Anjali...
Journal of American Association for Pediatric Ophthalmology and Strabismus. 26 (2022) 4 - p. 202-205 , 2022

Link: https://doi.org/10.1016/..