Suchergebnisse - "Pennesi, Mark E"

PubPharm (217)

1

Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy

enthalten in: Journal of inherited metabolic disease | 2024

von Gillingham, M. | Choi, D. | Gregor, A. | +9

2

Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy

enthalten in: Ophthalmic genetics | 2024

von da Palma, M. | Marra, M. | Igelman, A. | +8

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

A proposal for an updated staging system for LCHADD retinopathy

enthalten in: Ophthalmic genetics | 2024

von Wongchaisuwat, N. | Gillingham, M. | Yang, P. | +10

5

Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases

enthalten in: Human molecular genetics | 2024

von Brock, D. | Wang, M. | Hussain, H. | +16

6

Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Han, J. | Rodenburg, K. | Hayman, T. | +22

7

Assessment of Visual Function With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa in the Randomized XIRIUS Phase 2/3 Study

enthalten in: Ophthalmology | 2024

von Lam, B. | Pennesi, M. | Kay, C. | +49

8

A Prospective, Observational, Noninterventional Clinical Study of Participants With Choroideremia : The NIGHT Study

enthalten in: American journal of ophthalmology | 2024

von Maclaren, R. | Lam, B. | Fischer, M. | +12

9

Optical coherence tomography angiography of choroidal neovascularization in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

enthalten in: American journal of ophthalmology case reports | 2023

von Wongchaisuwat, N. | Wang, J. | Yang, P. | +7

10

Gene therapy in bestrophinopathies : Insights from preclinical studies in preparation for clinical trials

enthalten in: Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society | 2023

von Amato, A. | Wongchaisuwat, N. | Lamborn, A. | +4

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