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Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline Klein Haneveld, Mirthe J.; Swieczkowska, Katarzyna; Grybek, Tomasz; Labunets, Kinga; van Amelsvoort, Therese A. M. J.; Bedeschi, Maria F.; Behan, Claire; Dufke, Andreas; Dupont, Juliette; Gaasterland, Charlotte M. W.; Garavelli, Livia; Helverschou, Sissel B.; Mcanallen, Susan; Milska-Musa, Katarzyna A.; van Staa, Anneloes; Streata, Ioana; Stumpel, Connie T. R. M.; Tamburrino, Federica; Vasseghi, Mary; Vyshka, Klea; Wierzba, Jolanta M.; ERN ITHACA Guideline Working Grp; van Eeghen, Agnies M. Share Save
Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies Tamburrino, Federica; Mazzanti, Laura; Gibertoni, Dino; Schiavariello, Concetta; Perri, Annamaria; Orlandini, Eleonora; Rossi, Cesare; Tartaglia, Marco; Lanari, Marcello; Scarano, Emanuela Share Save
Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype Tamburrino, Federica; Mazzanti, Laura; Scarano, Emanuela; Gibertoni, Dino; Sirolli, Maria; Zioutas, Maximiliano; Schiavariello, Concetta; Perri, Annamaria; Mantovani, Alessio; Rossi, Cesare; Tartaglia, Marco; Pession, Andrea Share Save
New insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study Gambineri, A.; Scarano, E.; Rucci, P.; Perri, A.; Tamburrino, F.; Altieri, P.; Corzani, F.; Cecchetti, C.; Dionese, P.; Belardinelli, E.; Ibarra-Gasparini, D.; Menabo, S.; Vicennati, V.; Repaci, A.; di Dalmazi, G.; Pelusi, C.; Zavatta, G.; Virdi, A.; Neri, I; Fanelli, F.; Mazzanti, L.; Pagotto, U. Share Save
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum Motta, Marialetizia; Pannone, Luca; Pantaleoni, Francesca; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Cecchetti, Serena; Ciolfi, Andrea; Di Rocco, Martina; Elting, Mariet W.; Brilstra, Eva H.; Boni, Stefania; Mazzanti, Laura; Tamburrino, Federica; Walsh, Larry; Payne, Katelyn; Fernandez-Jaen, Alberto; Ganapathi, Mythily; Chung, Wendy K.; Grange, Dorothy K.; Dave-Wala, Ashita; Reshmi, Shalini C.; Bartholomew, Dennis W.; Mouhlas, Danielle; Carpentieri, Giovanna; Bruselles, Alessandro; Pizzi, Simone; Bellacchio, Emanuele; Piceci-Sparascio, Francesca; Lissewski, Christina; Brinkmann, Julia; Waclaw, Ronald R.; Waisfisz, Quinten; van Gassen, Koen; Wentzensen, Ingrid M.; Morrow, Michelle M.; Alvarez, Sara; Martinez-Garcia, Monica; De Luca, Alessandro; Memo, Luigi; Zampino, Giuseppe; Rossi, Cesare; Seri, Marco; Gelb, Bruce D.; Zenker, Martin; Dallapiccola, Bruno; Stella, Lorenzo; Prada, Carlos E.; Martinelli, Simone; Flex, Elisabetta; Tartaglia, Marco Share Save
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From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks Negri, Gloria; Magini, Pamela; Milani, Donatella; Colapietro, Patrizia; Rusconi, Daniela; Scarano, Emanuela; Bonati, Maria Teresa; Priolo, Manuela; Crippa, Milena; Mazzanti, Laura; Wischmeijer, Anita; Tamburrino, Federica; Pippucci, Tommaso; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina Share Save
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Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome Kuechler, Alma; Zink, Alexander M.; Wieland, Thomas; Luedecke, Hermann-Josef; Cremer, Kirsten; Salviati, Leonardo; Magini, Pamela; Najafi, Kimia; Zweier, Christiane; Czeschik, Johanna Christina; Aretz, Stefan; Endele, Sabine; Tamburrino, Federica; Pinato, Claudia; Clementi, Maurizio; Gundlach, Jasmin; Maylahn, Carina; Mazzanti, Laura; Wohlleber, Eva; Schwarzmayr, Thomas; Kariminejad, Roxana; Schlessinger, Avner; Wieczorek, Dagmar; Strom, Tim M.; Novarino, Gaia; Engels, Hartmut Share Save
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