P672: The evolving genetic landscape of Phelan-McDermid syndrome and implications for diagnostics
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425010805 |
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| _version_ | 1850178251309187072 |
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| author | Mary Hames Alexander Kolevzon Elizabeth Berry-Kravis Larry Glass Nancy Jones Brian Eisinger Liza Squires Tess Levy |
| author_facet | Mary Hames Alexander Kolevzon Elizabeth Berry-Kravis Larry Glass Nancy Jones Brian Eisinger Liza Squires Tess Levy |
| author_sort | Mary Hames |
| collection | DOAJ |
| format | Article |
| id | doaj-art-426625257a4446dcada0e42dca05eeed |
| institution | OA Journals |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-426625257a4446dcada0e42dca05eeed2025-08-20T02:18:47ZengElsevierGenetics in Medicine Open2949-77442025-01-01310304110.1016/j.gimo.2025.103041P672: The evolving genetic landscape of Phelan-McDermid syndrome and implications for diagnosticsMary Hames0Alexander Kolevzon1Elizabeth Berry-Kravis2Larry Glass3Nancy Jones4Brian Eisinger5Liza Squires6Tess Levy7Neuren Pharmaceuticals, Camberwell, Victoria, AustraliaIcahn School of Medicine at Mount Sinai, New York, NYRush University Medical Center, Chicago, ILNeuren Pharmaceuticals, Camberwell, Victoria, AustraliaNeuren Pharmaceuticals, Camberwell, Victoria, AustraliaNeuren Pharmaceuticals, Camberwell, Victoria, AustraliaNeuren Pharmaceuticals, Camberwell, Victoria, AustraliaIcahn School of Medicine at Mount Sinai, New York, NYhttp://www.sciencedirect.com/science/article/pii/S2949774425010805 |
| spellingShingle | Mary Hames Alexander Kolevzon Elizabeth Berry-Kravis Larry Glass Nancy Jones Brian Eisinger Liza Squires Tess Levy P672: The evolving genetic landscape of Phelan-McDermid syndrome and implications for diagnostics Genetics in Medicine Open |
| title | P672: The evolving genetic landscape of Phelan-McDermid syndrome and implications for diagnostics |
| title_full | P672: The evolving genetic landscape of Phelan-McDermid syndrome and implications for diagnostics |
| title_fullStr | P672: The evolving genetic landscape of Phelan-McDermid syndrome and implications for diagnostics |
| title_full_unstemmed | P672: The evolving genetic landscape of Phelan-McDermid syndrome and implications for diagnostics |
| title_short | P672: The evolving genetic landscape of Phelan-McDermid syndrome and implications for diagnostics |
| title_sort | p672 the evolving genetic landscape of phelan mcdermid syndrome and implications for diagnostics |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425010805 |
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