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Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care

PURPOSE: To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care. METHODS: Thi...

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Detaylı Bibliyografya
Yayımlandı:Genet Med
Asıl Yazarlar: Sanchez Russo, Rossana, Gambello, Michael J., Murphy, Melissa M., Aberizk, Katrina, Black, Emily, Burrell, T. Lindsey, Carlock, Grace, Cubells, Joseph F., Epstein, Michael T., Espana, Roberto, Goines, Katrina, Guest, Ryan M., Klaiman, Cheryl, Koh, Sookyong, Leslie, Elizabeth J., Li, Longchuan, Novacek, Derek M., Saulnier, Celine A., Sefik, Esra, Shultz, Sarah, Walker, Elaine, White, Stormi Pulver, Mulle, Jennifer Gladys
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group US 2021
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8105170/
https://ncbi.nlm.nih.gov/pubmed/33564151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-01053-1
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