Spectrum of phenotypic findings in individuals with Joubert syndrome and clinical correlation with identified mutations in the NPHP1,AHI1, and RPGRIP1L genes
| Autor: | Bakhsh, Eman, Glass, Ian A., Roepman, Ronald, Knoers, Nine V. A. M., Chance, Phillip F., Bennett, Craig L., Dobyns, William B., Indridason, Olafur S., Dohayan, Noura, Shahwan, Saad Al, Al Swaid, Abdulrahman, Giray, Ozlem, Ozyurek, Hamit, Shaw, Dennis W. W., Eckert, Melissa L., Gorden, Nicholas T., Arts, Heleen H., Doherty, Daniel, Parisi, Melissa A. |
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| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Databáze: | OpenAIRE |
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