Say‐Barber‐Biesecker‐Young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? von Lonardo, F., Lonardo, M.S., Acquaviva, F., Della Monica, M., Scarano, F., Scarano, G.

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Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene von Negri, G., Milani, D., Colapietro, P., Forzano, F., Della Monica, M., Rusconi, D., Consonni, L., Caffi, L. G., Finelli, P., Scarano, G., Magnani, C., Selicorni, A., Spena, S., Larizza, L., Gervasini, C.

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Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH von Vetro, A., Goidin, D., Lesende, I., Limongelli, I., Ranzani, G.N., Novara, F., Bonaglia, M.C., Rinaldi, B., Franchi, F., Manolakos, E., Lonardo, F., Scarano, F., Scarano, G., Costantino, L., Tedeschi, S., Giglio, S., Zuffardi, O.

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WNT4 deficiency—a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: A Case Report von Biason-Lauber, A., De Filippo, G., Konrad, D., Scarano, G., Nazzaro, A., Schoenle, E.J.

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SNORD116 deletions cause Prader‐Willi syndrome with a mild phenotype and macrocephaly von Fontana, P., Grasso, M., Acquaviva, F., Gennaro, E., Galli, M.L., Falco, M., Scarano, F., Scarano, G., Lonardo, F.

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Fast near-maximum likelihood phase estimation of X-ray pulsars von Rinauro, S., Colonnese, S., Scarano, G.

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Prenatal diagnosis of severe structural congenital malformations in Europe von Garne, E., Loane, M., Dolk, H., De Vigan, C., Scarano, G., Tucker, D., Stoll, C., Gener, B., Pierini, A., Nelen, V., Rösch, C., Gillerot, Y., Feijoo, M., Tincheva, R., Queisser‐Luft, A., Addor, M.‐C., Mosquera, C., Gatt, M., Barisic, I.

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Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients von Spena, S., Milani, D., Rusconi, D., Negri, G., Colapietro, P., Elcioglu, N., Bedeschi, F., Pilotta, A., Spaccini, L., Ficcadenti, A., Magnani, C., Scarano, G., Selicorni, A., Larizza, L., Gervasini, C.

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The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys von Bedeschi, M. F., Mora, S., Antoniazzi, F., Boero, S., Ravasio, R., Scarano, G., Selicorni, A., Sessa, M., Verdoni, F., Zampino, G., Maghnie, M.

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Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome von Lopez-Atalaya, J P, Gervasini, C, Mottadelli, F, Spena, S, Piccione, M, Scarano, G, Selicorni, A, Barco, A, Larizza, L

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Allergooncology: an expanding research area von Della Valle, L, Gatta, A, Farinelli, A, Scarano, G, Lumaca, A, Tinari, N, Cipollone, F, Paganelli, R, Di Gioacchino, M

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Discrete time techniques for time delay estimation von Jacovitti, G., Scarano, G.

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Bayesian image interpolation using Markov random fields driven by visually relevant image features von Colonnese, S., Rinauro, S., Scarano, G.

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Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide von Wilcken, B, Bamforth, F, Li, Z, Zhu, H, Ritvanen, A, Redlund, M, Stoll, C, Alembik, Y, Dott, B, Czeizel, A E, Gelman-Kohan, Z, Scarano, G, Bianca, S, Ettore, G, Tenconi, R, Bellato, S, Scala, I, Mutchinick, O M, López, M A, de Walle, H, Hofstra, R, Joutchenko, L, Kavteladze, L, Bermejo, E, Martínez-Frías, M L, Gallagher, M, Erickson, J D, Vollset, S E, Mastroiacovo, P, Andria, G, Botto, L D

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Synthesis and stability of phytochelatins induced by cadmium and lead in the marine diatom Phaeodactylum tricornutum von Morelli, E., Scarano, G.

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Kounis Syndrome as First Manifestation of Allergic Sensitization von Petrarca, Claudia, Paganelli, R., Di Giampaolo, L., Di Gioacchino, Mario, Farinelli, A., Della Valle, L., Gatta, A., Paloscia, L., Di Marco, M., D’Alleva, A., Scarano, G., Forlani, D., Lumaca, A.

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Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation von Selicorni, A, Russo, S, Gervasini, C, Castronovo, P, Milani, D, Cavalleri, F, Bentivegna, A, Masciadri, M, Domi, A, Divizia, MT, Sforzini, C, Tarantino, E, Memo, L, Scarano, G, Larizza, L

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Gain-Control-Free Near-Efficient Phase Acquisition for QAM Constellations von Panci, G., Colonnese, S., Rinauro, S., Scarano, G.

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Robust rotation-invariant texture classification using a model based approach von Campisi, P., Neri, A., Panci, G., Scarano, G.

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Semiblind Bussgang Equalization for Sparse Channels von Colonnese, S., Panci, G., Rinauro, S., Scarano, G.

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