Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes–Brocks Syndrome by Anna Maria Innoceta, Giulia Olivucci, Giulia Parmeggiani, Emanuela Scarano, Antonella Pragliola, Claudio Graziano

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Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype by Federica Tamburrino, Laura Mazzanti, Emanuela Scarano, Dino Gibertoni, Maria Sirolli, Maximiliano Zioutas, Concetta Schiavariello, Annamaria Perri, Alessio Mantovani, Cesare Rossi, Marco Tartaglia, Andrea Pession

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Real-life long-term efficacy and safety of recombinant human growth hormone therapy in children with short stature homeobox-containing deficiency by Patrizia Bruzzi, Silvia Vannelli, Emanuela Scarano, Natascia Di Iorgi, Maria Parpagnoli, MariaCarolina Salerno, Marco Pitea, Maria Elisabeth Street, Andrea Secco, Adolfo Andrea Trettene, Malgorzata Wasniewska, Nicola Corciulo, Gianluca Tornese, Maria Felicia Faienza, Maurizio Delvecchio, Simona Filomena Madeo, Lorenzo Iughetti

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Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height by Annachiara Libraro, Vito D’Ascanio, Marco Cappa, Mariangela Chiarito, Maria Cristina Digilio, Silvia Einaudi, Anna Grandone, Mohamad Maghnie, Mohamad Maghnie, Laura Mazzanti, Alessandro Mussa, Giuseppa Patti, Giuseppa Patti, Emanuela Scarano, Antonietta Spinuzza, Silvia Vannelli, Malgorzata Gabriela Wasniewska, Giovanni Battista Ferrero, Maria Felicia Faienza

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Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome by Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. vanKempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle deJong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp

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Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia by Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, Domenico Trombetta, Claudia Battista, Tommaso Biagini, Bartolomeo Augello, Grazia Nardella, Francesco Conti, Sabrina Corbetta, Sabrina Corbetta, Rita Fischetto, Thomas Foiadelli, Agostino Gaudio, Cosimo Giannini, Enrico Grosso, Gregorio Guabello, Stefania Massuras, Andrea Palermo, Luisa Politano, Francesca Pigliaru, Rosaria Maddalena Ruggeri, Emanuela Scarano, Piera Vicchio, Salvatore Cannavò, Mauro Celli, Francesco Petrizzelli, Mario Mastroianno, Marco Castori, Alfredo Scillitani, Vito Guarnieri

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The Italian registry for patients with Prader–Willi syndrome by Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, Giuseppa Patti, Antonino Crinò, Maurizio Elia, Donatella Greco, Corrado Romano, Adriana Franzese, Enza Mozzillo, Annamaria Colao, Gabriella Pugliese, Uberto Pagotto, Valentina Lo Preiato, Emanuela Scarano, Concetta Schiavariello, Gianluca Tornese, Danilo Fintini, Sarah Bocchini, Sara Osimani, Luisa De Sanctis, Michele Sacco, Irene Rutigliano, Maurizio Delvecchio, Maria Felicia Faienza, Malgorzata Wasniewska, Domenico Corica, Stefano Stagi, Laura Guazzarotti, Pietro Maffei, Francesca Dassie, Domenica Taruscio

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