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1.
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.
Ophthalmic Res;
65(2): 180-195, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-34781295
2.
A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.
Int J Mol Sci;
22(19)2021 Oct 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-34639157
3.
Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.
Int J Mol Sci;
22(1)2020 Dec 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-33396523
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