Predictors of surgical outcomes of retroperitoneal laparoscopic partial nephrectomy by Carmine Sciorio, Pier Paolo Prontera, Salvatore Scuzzarella, Paolo Verze, Lorenzo Spirito, Lorenzo Romano, Alberto Trinchieri

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Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the <i>AMN</i> Gene: A Case Report by Alessandra Pacitto, Paolo Prontera, Gabriela Stangoni, Maurizio Stefanelli, Stefania Ceppi, Carla Cerri, Grazia Gurdo, Annalisa Mencarelli, Susanna Esposito

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Quality of bladder cancer treatment information on YouTube: May the user’s profile affect the quality of results? by Pier Paolo Prontera, Francesca Romana Prusciano, Marco Lattarulo, Emanuele Utano, Francesco Schiralli, Carmine Sciorio, Lorenzo Romano, Francesco Saverio Grossi

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Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations by Giovanni Battista Dell’Isola, Elisabetta Mencaroni, Antonella Fattorusso, Giorgia Tascini, Paolo Prontera, Valentina Imperatore, Giuseppe Di Cara, Pasquale Striano, Alberto Verrotti

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<i>SPECC1L</i> Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome by Chiara Migliore, Anna Vendramin, Shane McKee, Paolo Prontera, Francesca Faravelli, Rani Sachdev, Patricia Dias, Martina Mascaro, Danilo Licastro, Germana Meroni

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Early diagnosis and management of arterio-ureteral fistulas: A literature review by Pier Paolo Prontera, Carmine Sciorio, Antonio De Cillis, Evangelista Martinelli, Francesco Schiralli, Marco Lattarulo, Angelo D'Elia, Emanuele Utano, Francesco Saverio Grossi

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Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri–Weill Dyschondrosteosis by Laura Lucchetti, Paolo Prontera, Amedea Mencarelli, Amedea Mencarelli, Ester Sallicandro, Annalisa Mencarelli, Marta Cofini, Alberto Leonardi, Gabriela Stangoni, Laura Penta, Susanna Esposito

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NFIA haploinsufficiency: case series and literature review by Gianluca Dini, Alberto Verrotti, Paolo Gorello, Luca Soliani, Luca Soliani, Duccio Maria Cordelli, Duccio Maria Cordelli, Vincenzo Antona, Amedea Mencarelli, Davide Colavito, Paolo Prontera

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Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a−/− mice by Daniel F. Burgos, Miriam Sciaccaluga, Carolyn A. Worby, Luis Zafra-Puerta, Nerea Iglesias-Cabeza, Gema Sánchez-Martín, Paolo Prontera, Cinzia Costa, José M. Serratosa, Marina P. Sánchez

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A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in <i>LTBP3</i> by Elisabetta Flex, Valentina Imperatore, Giovanna Carpentieri, Alessandro Bruselles, Andrea Ciolfi, Simone Pizzi, Maria Giovanna Tedesco, Daniela Rogaia, Amedea Mencarelli, Giuseppe Di Cara, Alberto Verrotti, Stefania Troiani, Giuseppe Merla, Marco Tartaglia, Paolo Prontera

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Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome by Kathleen Rooney, Michael A. Levy, Sadegheh Haghshenas, Jennifer Kerkhof, Daniela Rogaia, Maria Giovanna Tedesco, Valentina Imperatore, Amedea Mencarelli, Gabriella Maria Squeo, Eleonora Di Venere, Giuseppe Di Cara, Alberto Verrotti, Giuseppe Merla, Matthew L. Tedder, Barbara R. DuPont, Bekim Sadikovic, Paolo Prontera

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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) by Valentina Guida, Luciano Calzari, Maria Teresa Fadda, Francesca Piceci-Sparascio, Maria Cristina Digilio, Laura Bernardini, Francesco Brancati, Teresa Mattina, Daniela Melis, Francesca Forzano, Silvana Briuglia, Tommaso Mazza, Sebastiano Bianca, Enza Maria Valente, Leila Bagherjad Salehi, Paolo Prontera, Mario Pagnoni, Romano Tenconi, Bruno Dallapiccola, Giorgio Iannetti, Luigi Corsaro, Alessandro De Luca, Davide Gentilini

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Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying <i>NSD1</i> Variants by Marco Ferilli, Andrea Ciolfi, Lucia Pedace, Marcello Niceta, Francesca Clementina Radio, Simone Pizzi, Evelina Miele, Camilla Cappelletti, Cecilia Mancini, Tiziana Galluccio, Marco Andreani, Maria Iascone, Luigi Chiriatti, Antonio Novelli, Alessia Micalizzi, Marta Matraxia, Lucia Menale, Flavio Faletra, Paolo Prontera, Alba Pilotta, Maria Francesca Bedeschi, Rossella Capolino, Anwar Baban, Marco Seri, Corrado Mammì, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Manuela Priolo, Marco Tartaglia

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ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection by Ajay X. Thomas, Nichole Link, Laurie A. Robak, Gail Demmler‐Harrison, Emily C. Pao, Audrey E. Squire, Savannah Michels, Julie S. Cohen, Anne Comi, Paolo Prontera, Alberto Verrotti di Pianella, Giuseppe Di Cara, Livia Garavelli, Stefano Giuseppe Caraffi, Carlo Fusco, Roberta Zuntini, Kendall C. Parks, Elliott H. Sherr, Mais O. Hashem, Sateesh Maddirevula, Fowzan S. Alkuraya, Isphana A. F. Contractar, Jennifer E. Neil, Christopher A. Walsh, Hugo J. Bellen, Hsiao‐Tuan Chao, Robin D. Clark, Ghayda M. Mirzaa

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FOXI3 pathogenic variants cause one form of craniofacial microsomia by Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E. Antonarakis

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