20052019

Research output per year

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Fingerprint Dive into the research topics where Francesca Romana Lepri is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Capri, Y., Flex, E., Krumbach, O. H. F., Carpentieri, G., Cecchetti, S., Lißewski, C., Rezaei Adariani, S., Schanze, D., Brinkmann, J., Piard, J., Pantaleoni, F., Lepri, F. R., Goh, E. S-Y., Chong, K., Stieglitz, E., Meyer, J., Kuechler, A., Bramswig, N. C., Sacharow, S., Strullu, M. & 13 others, Vial, Y., Vignal, C., Kensah, G., Cuturilo, G., Kazemein Jasemi, N. S., Dvorsky, R., Monaghan, K. G., Vincent, L. M., Cavé, H., Verloes, A., Ahmadian, M. R., Tartaglia, M. & Zenker, M., Jun 6 2019, In : American Journal of Human Genetics. 104, 6, p. 1223-1232 10 p.

Research output: Contribution to journalArticle

  • Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome

    Pennisi, A., Maranda, B., Benoist, J-F., Baudouin, V., Rigal, O., Pichard, S., Santer, R., Romana Lepri, F., Novelli, A., Ogier de Baulny, H., Dionisi-Vici, C. & Schiff, M., Dec 9 2019, In : Journal of Inherited Metabolic Disease.

    Research output: Contribution to journalArticle

  • Novel Mutations and Unreported Clinical Features in KBG Syndrome

    Scarano, E., Tassone, M., Graziano, C., Gibertoni, D., Tamburrino, F., Perri, A., Gnazzo, M., Severi, G., Lepri, F. & Mazzanti, L., May 2019, In : Molecular Syndromology. 10, 3, p. 130-138 9 p.

    Research output: Contribution to journalArticle

  • Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

    Pinna, V., Daniele, P., Calcagni, G., Mariniello, L., Criscione, R., Giardina, C., Lepri, F. R., Hozhabri, H., Alberico, A., Cavone, S., Morella, A. T., Mandile, R., Annunziata, F., Di Giosaffatte, N., D'Asdia, M. C., Versacci, P., Capolino, R., Strisciuglio, P., Giustini, S., Melis, D. & 4 others, Digilio, M. C., Tartaglia, M., Marino, B. & De Luca, A., Sep 4 2019, In : Genes. 10, 9

    Research output: Contribution to journalArticle

    Open Access