Suchergebnisse - "Duncan, Jacque L"

PubPharm (163)

1

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders

enthalten in: Brain : a journal of neurology | 2024

von Liu, J. | He, Y. | Lwin, C. | +42

2

Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variation

enthalten in: eLife | 2024

von Kandoi, S. | Martinez, C. | Chen, K. | +5

UpdateOf: medRxiv. 2023 Nov 06;:. - PMID 36909455

3

Functional Vision in Patients With Biallelic USH2A Variants

enthalten in: American journal of ophthalmology | 2024

von Heon, E. | Melia, M. | Bocchino, L. | +14

4

Retinal Disorders

enthalten in: Cold Spring Harbor perspectives in medicine | 2024

von Sahel, J. | Banin, E. | Bennett, J. | +2

5

Retinal End Points for ATXN7-Related Spinocerebellar Ataxia

enthalten in: JAMA ophthalmology | 2024

von Duncan, J.

CommentIn: JAMA Ophthalmol. 2024 Apr 1;142(4):301-308. - PMID 38421662

6

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration

enthalten in: Research square | 2024

von Sangermano, R. | Gupta, P. | Price, C. | +14

7

Classification and Growth Rate of Chorioretinal Atrophy after Voretigene Neparvovec-Rzyl for RPE65-Mediated Retinal Degeneration

enthalten in: Ophthalmology. Retina | 2024

von Bommakanti, N. | Young, B. | Sisk, R. | +9

8

Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated withRHOcopy number variation

enthalten in: bioRxiv.org | 2023

von Kandoi, S. | Martinez, C. | Chen, K. | +5

9

Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated with RHO copy number variation

enthalten in: medRxiv : the preprint server for health sciences | 2023

von Kandoi, S. | Martinez, C. | Chen, K. | +5

UpdateIn: Elife. 2024 Apr 25;12:. - PMID 38661530

10

Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency

enthalten in: Ophthalmic genetics | 2023

von Stallworth, J. | Blair, D. | Slavotinek, A. | +3

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