Suchergebnisse - "Chelva, Enid"

PubPharm (44)

1

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)

enthalten in: Documenta ophthalmologica. Advances in ophthalmology | 2021

von Pappalardo, J. | Heath Jeffery, R. | Thompson, J. | +7

2

Evaluation of focus and deep learning methods for automated image grading and factors influencing image quality in adaptive optics ophthalmoscopy

enthalten in: Scientific reports | 2021

von Sampson, D. | Alonso-Caneiro, D. | Chew, A. | +7

3

Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy

enthalten in: Ophthalmic genetics | 2021

von Huang, Z. | Zhang, D. | Thompson, J. | +13

4

Retinal Differential Light Sensitivity Variation Across the Macula in Healthy Subjects : Importance of Cone Separation and Loci Eccentricity

enthalten in: Translational vision science & technology | 2021

von Sampson, D. | Roshandel, D. | Chew, A. | +11

5

Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy

enthalten in: Ophthalmic genetics | 2021

von Roshandel, D. | Thompson, J. | Charng, J. | +12

6

Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family

enthalten in: Ophthalmic genetics | 2021

von Pappalardo, J. | Heath Jeffery, R. | Thompson, J. | +7

7

Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies

enthalten in: Translational vision science & technology | 2021

von Roshandel, D. | Thompson, J. | Heath Jeffery, R. | +7

8

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)

enthalten in: Documenta ophthalmologica | 2021

von Pappalardo, J. | Heath Jeffery, R. | Thompson, J. | +7

9

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)

enthalten in: Documenta ophthalmologica | 2021

von Pappalardo, J. | Heath Jeffery, R. | Thompson, J. | +7

10

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)

enthalten in: Documenta ophthalmologica | 2021

von Pappalardo, J. | Heath Jeffery, R. | Thompson, J. | +7

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