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From karyotypes to precision genomics in 9p deletion and duplication syndromes
While 9p deletion and duplication syndromes have been studied for several years, small sample sizes and minimal high-resolution data have limited a comprehensive delineation of genotypic and phenotypic characteristics. In this study, we examined genetic data from 719 individuals in the worldwide 9p...
Autores principales: | Sams, Eleanor I., Ng, Jeffrey K., Tate, Victoria, Claire Hou, Ying-Chen, Cao, Yang, Antonacci-Fulton, Lucinda, Belhassan, Khadija, Neidich, Julie, Mitra, Robi D., Cole, F. Sessions, Dickson, Patricia, Milbrandt, Jeffrey, Turner, Tychele N. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756500/ https://www.ncbi.nlm.nih.gov/pubmed/35047865 http://dx.doi.org/10.1016/j.xhgg.2021.100081 |
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