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Fingerprint Dive into the research topics where Stefano D'Arrigo is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

Ciaccio, C., Saletti, V., D'Arrigo, S., Esposito, S., Alfei, E., Moroni, I., Tonduti, D., Chiapparini, L., Pantaleoni, C. & Milani, D., 2019, In : European Journal of Medical Genetics. 62, 12, 103596.

Research output: Contribution to journalArticle

  • EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome

    Childhood Overgrowth Collaboration, Griffiths, S., Loveday, C., Zachariou, A., Behan, L. A., Chandler, K., Cole, T., D'Arrigo, S., Dieckmann, A., Foster, A., Gibney, J., Hunter, M., Milani, D., Pantaleoni, C., Roche, E., Sherlock, M., Springer, A., White, S. M. & Tatton-Brown, K., Apr 1 2019, In : American Journal of Medical Genetics, Part A. 179, 4, p. 588-594 7 p.

    Research output: Contribution to journalArticle

  • Healthcare recommendations for Joubert syndrome

    Bachmann-Gagescu, R., Dempsey, J. C., Bulgheroni, S., Chen, M. L., D'Arrigo, S., Glass, I. A., Heller, T., Héon, E., Hildebrandt, F., Joshi, N., Knutzen, D., Kroes, H. Y., Mack, S. H., Nuovo, S., Parisi, M. A., Snow, J., Summers, A. C., Symons, J. M., Zein, W. M., Boltshauser, E. & 4 others, Sayer, J. A., Gunay-Aygun, M., Valente, E. M. & Doherty, D., Nov 11 2019, In : American journal of medical genetics. Part A. 182, 1, p. 229-249 21 p.

    Research output: Contribution to journalReview article

  • Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

    Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D'Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Moroni, I., Nardocci, N., Panteghini, C., Parazzini, C., Pichiecchio, A., Pini, A., Ricci, F., Saletti, V., Salvatici, E., Santorelli, F. M., Sartori, S., Tinelli, F., Uggetti, C., Veneselli, E., Zorzi, G., Garavaglia, B., Fazzi, E., Orcesi, S. & Cereda, C., May 26 2019, In : Journal of Clinical Medicine. 8, 5

    Research output: Contribution to journalArticle

  • Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

    Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D'Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Moroni, I., Nardocci, N., Panteghini, C., Parazzini, C., Pichiecchio, A., Pini, A., Ricci, F., Saletti, V., Salvatici, E., Santorelli, F. M., Sartori, S., Tinelli, F., Uggetti, C., Veneselli, E., Zorzi, G., Garavaglia, B., Fazzi, E., Orcesi, S. & Cereda, C., May 26 2019, In : Journal of Clinical Medicine. 8, 5

    Research output: Contribution to journalArticle