Maternal Transmission of 17q12 Microdeletion: Intrafamilial Phenotypic Variability and Diagnostic Hurdles—A Case Report by Susanna Negrisolo, Gianluca Caridi, Benedetta Antoniello, Elisa Benetti

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The NLRP3 Inflammasome as a Novel Player of the Intercellular Crosstalk in Metabolic Disorders by Elisa Benetti, Fausto Chiazza, Nimesh S. A. Patel, Massimo Collino

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Nutritional Management of Idiopathic Nephrotic Syndrome in Pediatric Age by Graziana Lella, Luca Pecoraro, Elisa Benetti, Olivia Chapin Arnone, Giorgio Piacentini, Milena Brugnara, Angelo Pietrobelli

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Evaluation and Management of Urological Complications Following Pediatric Kidney Transplantation: Experience from a Single Tertiary Center by Maria Sangermano, Enrico Montagnani, Serena Vigezzi, Marco Moi, Alessandro Morlacco, Nicola Bertazza Partigiani, Elisa Benetti

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High Sugar Intake and Development of Skeletal Muscle Insulin Resistance and Inflammation in Mice: A Protective Role for PPAR-δ Agonism by Elisa Benetti, Raffaella Mastrocola, Mara Rogazzo, Fausto Chiazza, Manuela Aragno, Roberto Fantozzi, Massimo Collino, Marco A. Minetto

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Early Use of Sotrovimab in Children: A Case Report of an 11-Year-Old Kidney Transplant Recipient Infected with SARS-CoV-2 by Costanza Di Chiara, Daniele Mengato, Marica De Pieri, Germana Longo, Elisa Benetti, Francesca Venturini, Carlo Giaquinto, Daniele Donà

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Evidence-Based Anti-Diabetic Properties of Plant from the Occitan Valleys of the Piedmont Alps by Valentina Boscaro, Matteo Rivoira, Barbara Sgorbini, Valentina Bordano, Francesca Dadone, Margherita Gallicchio, Aline Pons, Elisa Benetti, Arianna Carolina Rosa

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Sedentariness and Urinary Metabolite Profile in Type 2 Diabetic Patients, a Cross-Sectional Study by Elisa Benetti, Erica Liberto, Davide Bressanello, Valentina Bordano, Arianna C. Rosa, Gianluca Miglio, Jonida Haxhi, Giuseppe Pugliese, Stefano Balducci, Chiara Cordero

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The Interplay between Histamine H₄ Receptor and the Kidney Function: The Lesson from H₄ Receptor Knockout Mice by Roberta Verta, Maura Gurrieri, Sara Borga, Elisa Benetti, Paolo Pollicino, Roberta Cavalli, Robin L. Thurmond, Paul L. Chazot, Alessandro Pini, Arianna Carolina Rosa, Cristina Grange

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Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations by Floriana Valentino, Lucia Pia Bruno, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Resciniti, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Margherita Baldassarri, Alessandra Fabbiani, Vittoria Lamacchia, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani

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Clinical and molecular characterization of COVID-19 hospitalized patients. by Elisa Benetti, Annarita Giliberti, Arianna Emiliozzi, Floriana Valentino, Laura Bergantini, Chiara Fallerini, Federico Anedda, Sara Amitrano, Edoardo Conticini, Rossella Tita, Miriana d'Alessandro, Francesca Fava, Simona Marcantonio, Margherita Baldassarri, Mirella Bruttini, Maria Antonietta Mazzei, Francesca Montagnani, Marco Mandalà, Elena Bargagli, Simone Furini, GEN-COVID Multicenter Study, Alessandra Renieri, Francesca Mari

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SELP Asp603Asn and severe thrombosis in COVID-19 males by Chiara Fallerini, Sergio Daga, Elisa Benetti, Nicola Picchiotti, Kristina Zguro, Francesca Catapano, Virginia Baroni, Simone Lanini, Alessandro Bucalossi, Giuseppe Marotta, Francesca Colombo, Margherita Baldassarri, Francesca Fava, Giada Beligni, Laura Di Sarno, Diana Alaverdian, Maria Palmieri, Susanna Croci, Andrea M. Isidori, Simone Furini, Elisa Frullanti, GEN-COVID Multicenter Study, Alessandra Renieri, Francesca Mari

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Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males by Chiara Fallerini, Sergio Daga, Elisa Benetti, Nicola Picchiotti, Kristina Zguro, Francesca Catapano, Virginia Baroni, Simone Lanini, Alessandro Bucalossi, Giuseppe Marotta, Francesca Colombo, Margherita Baldassarri, Francesca Fava, Giada Beligni, Laura Di Sarno, Diana Alaverdian, Maria Palmieri, Susanna Croci, Andrea M. Isidori, Simone Furini, Elisa Frullanti, on behalf of GEN-COVID Multicenter Study, Alessandra Renieri, Francesca Mari

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses by German Demidov, Burcu Yaldiz, José Garcia-Pelaez, Elke de Boer, Nika Schuermans, Liedewei Van de Vondel, Ida Paramonov, Lennart F. Johansson, Francesco Musacchia, Elisa Benetti, Gemma Bullich, Karolis Sablauskas, Sergi Beltran, Christian Gilissen, Alexander Hoischen, Stephan Ossowski, Richarda de Voer, Katja Lohmann, Carla Oliveira, Ana Topf, Lisenka E. L. M. Vissers, Solve-RD Consortium, Steven Laurie

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Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study by Chiara Fallerini, Sergio Daga, Stefania Mantovani, Elisa Benetti, Nicola Picchiotti, Daniela Francisci, Francesco Paciosi, Elisabetta Schiaroli, Margherita Baldassarri, Francesca Fava, Maria Palmieri, Serena Ludovisi, Francesco Castelli, Eugenia Quiros-Roldan, Massimo Vaghi, Stefano Rusconi, Matteo Siano, Maria Bandini, Ottavia Spiga, Katia Capitani, Simone Furini, Francesca Mari, GEN-COVID Multicenter Study, Alessandra Renieri, Mario U Mondelli, Elisa Frullanti

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Evaluation of the Kinetics of Antibody Response to COVID-19 Vaccine in Solid Organ Transplant Recipients: The Prospective Multicenter ORCHESTRA Cohort by Maddalena Giannella, Elda Righi, Renato Pascale, Matteo Rinaldi, Natascia Caroccia, Chiara Gamberini, Zaira R. Palacios-Baena, Giulia Caponcello, Maria Cristina Morelli, Mariarosa Tamè, Marco Busutti, Giorgia Comai, Luciano Potena, Elena Salvaterra, Giuseppe Feltrin, Umberto Cillo, Gino Gerosa, Mara Cananzi, Salvatore Piano, Elisa Benetti, Patrizia Burra, Monica Loy, Lucrezia Furian, Gianluigi Zaza, Francesco Onorati, Amedeo Carraro, Fiorella Gastaldon, Maurizio Nordio, Samir Kumar-Singh, Mahsa Abedini, Paolo Boffetta, Jesús Rodríguez-Baño, Tiziana Lazzarotto, Pierluigi Viale, Evelina Tacconelli, on behalf of The ORCHESTRA Study Group Workpackage

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Current Practices on Diagnosis, Prevention and Treatment of Post-Transplant Lymphoproliferative Disorder in Pediatric Patients after Solid Organ Transplantation: Results of ERN Tra... by Alastair Baker, Esteban Frauca Remacha, Juan Torres Canizales, Luz Yadira Bravo-Gallego, Emer Fitzpatrick, Angel Alonso Melgar, Gema Muñoz Bartolo, Luis Garcia Guereta, Esther Ramos Boluda, Yasmina Mozo, Dorota Broniszczak, Wioletta Jarmużek, Piotr Kalicinski, Britta Maecker-Kolhoff, Julia Carlens, Ulrich Baumann, Charlotte Roy, Christophe Chardot, Elisa Benetti, Mara Cananzi, Elisabetta Calore, Luca Dello Strologo, Manila Candusso, Maria Francelina Lopes, Manuel João Brito, Cristina Gonçalves, Carmen Do Carmo, Xavier Stephenne, Lars Wennberg, Rosário Stone, Jelena Rascon, Caroline Lindemans, Dominik Turkiewicz, Eugenia Giraldi, Emanuele Nicastro, Lorenzo D’Antiga, Oanez Ackermann, Paloma Jara Vega

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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 by Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Hanns Lochmüller, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

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