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Phelan‐McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports
The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan‐McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare synd...
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| 出版年: | Am J Med Genet B Neuropsychiatr Genet |
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| 主要な著者: | , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5832521/ https://ncbi.nlm.nih.gov/pubmed/28862395 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.b.32579 |
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