Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features
| Autor: | Chong, Jessica X., Yu, Joon-Ho, Lorentzen, Peter, Park, Karen M., Jamal, Seema M., Tabor, Holly K., Rauch, Anita, Saenz, Margarita Sifuentes, Boltshauser, Eugen, Patterson, Karynne E., Nickerson, Deborah A., Bamshad, Michael J. |
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| Zdroj: | In Genetics in Medicine August 2016 18(8):788-795 |
| Databáze: | ScienceDirect |
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