P435: CEP78-associated cone-rod dystrophy and hearing loss unveiled through retinal dystrophy panel: Resolving uncertainty in a family with inconclusive WES
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424004758 |
| _version_ | 1797267471782117376 |
|---|---|
| author | Yi Zhai Brian Ballios |
| author_facet | Yi Zhai Brian Ballios |
| author_sort | Yi Zhai |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:17:07Z |
| format | Article |
| id | doaj.art-9100967237d44425a7e34bc1b27e74a1 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:17:07Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-9100967237d44425a7e34bc1b27e74a12024-03-09T09:32:09ZengElsevierGenetics in Medicine Open2949-77442024-01-012101329P435: CEP78-associated cone-rod dystrophy and hearing loss unveiled through retinal dystrophy panel: Resolving uncertainty in a family with inconclusive WESYi Zhai0Brian Ballios1Hospital for Sick ChildrenUniversity of Torontohttp://www.sciencedirect.com/science/article/pii/S2949774424004758 |
| spellingShingle | Yi Zhai Brian Ballios P435: CEP78-associated cone-rod dystrophy and hearing loss unveiled through retinal dystrophy panel: Resolving uncertainty in a family with inconclusive WES Genetics in Medicine Open |
| title | P435: CEP78-associated cone-rod dystrophy and hearing loss unveiled through retinal dystrophy panel: Resolving uncertainty in a family with inconclusive WES |
| title_full | P435: CEP78-associated cone-rod dystrophy and hearing loss unveiled through retinal dystrophy panel: Resolving uncertainty in a family with inconclusive WES |
| title_fullStr | P435: CEP78-associated cone-rod dystrophy and hearing loss unveiled through retinal dystrophy panel: Resolving uncertainty in a family with inconclusive WES |
| title_full_unstemmed | P435: CEP78-associated cone-rod dystrophy and hearing loss unveiled through retinal dystrophy panel: Resolving uncertainty in a family with inconclusive WES |
| title_short | P435: CEP78-associated cone-rod dystrophy and hearing loss unveiled through retinal dystrophy panel: Resolving uncertainty in a family with inconclusive WES |
| title_sort | p435 cep78 associated cone rod dystrophy and hearing loss unveiled through retinal dystrophy panel resolving uncertainty in a family with inconclusive wes |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424004758 |
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