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Brunetti-Pierri R, Karali M, Testa F, Cappuccio G, Onore ME, Romano F, De Rosa G, Tedeschi E, Brunetti-Pierri N, Banfi S, et al. Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants. Diagnostics. 2021; 11(7):1218. https://doi.org/10.3390/diagnostics11071218

Brunetti-Pierri, Raffaella, Marianthi Karali, Francesco Testa, Gerarda Cappuccio, Maria Elena Onore, Francesca Romano, Giuseppe De Rosa, Enrico Tedeschi, Nicola Brunetti-Pierri, Sandro Banfi, and et al. 2021. "Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants" Diagnostics 11, no. 7: 1218. https://doi.org/10.3390/diagnostics11071218

Brunetti-Pierri, R., Karali, M., Testa, F., Cappuccio, G., Onore, M. E., Romano, F., De Rosa, G., Tedeschi, E., Brunetti-Pierri, N., Banfi, S., & Simonelli, F. (2021). Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants. Diagnostics, 11(7), 1218. https://doi.org/10.3390/diagnostics11071218