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Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
Phenotypes observed in a large cohort of patients with cone and cone-rod dystrophies (COD/CORDs) are described based on multimodal retinal imaging features in order to help in analyzing massive next-generation sequencing data. Structural abnormalities of 58 subjects with molecular diagnosis of COD/C...
Gorde:
| Argitaratua izan da: | Int J Mol Sci |
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| Egile Nagusiak: | , , , , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
MDPI
2019
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6801687/ https://ncbi.nlm.nih.gov/pubmed/31574917 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20194854 |
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