Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders von Rinaldi, Berardo, Villa, Roberta, Sironi, Alessandra, Garavelli, Livia, Finelli, Palma, Bedeschi, Maria Francesca

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The spatiotemporal organization of episodic memory and its disruption in a neurodevelopmental disorder von Mastrogiuseppe, Marilina, Bertelsen, Natasha, Bedeschi, Maria Francesca, Lee, Sang Ah

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Congenital midline cervical cleft: Clinical approach to a congenital anterior neck defect von Crippa, Beatrice Letizia, Bedeschi, Maria Francesca, Cantarella, Giovanna, Colombo, Lorenzo, Agosti, Viola, Amodeo, Ilaria, Fumagalli, Monica, Mazzola, Isabella, Mosca, Fabio

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FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development von Unger, Sheila, Górna, Maria W., Le Béchec, Antony, Do Vale-Pereira, Sonia, Bedeschi, Maria Francesca, Geiberger, Stefan, Grigelioniene, Giedre, Horemuzova, Eva, Lalatta, Faustina, Lausch, Ekkehart, Magnani, Cinzia, Nampoothiri, Sheela, Nishimura, Gen, Petrella, Duccio, Rojas-Ringeling, Francisca, Utsunomiya, Akari, Zabel, Bernhard, Pradervand, Sylvain, Harshman, Keith, Campos-Xavier, Belinda, Bonafé, Luisa, Superti-Furga, Giulio, Stevenson, Brian, Superti-Furga, Andrea

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Author Correction: The spatiotemporal organization of episodic memory and its disruption in a neurodevelopmental disorder von Mastrogiuseppe, Marilina, Bertelsen, Natasha, Bedeschi, Maria Francesca, Lee, Sang Ah

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Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome von Capecchi, Ester, Villa, Roberta, Pini, Alessandro, Iascone, Maria, Messina, Laura, Ajmone, Paola Francesca, Mosca, Fabio, Gangi, Silvana, Bedeschi, Maria Francesca

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CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia von Consales, Alessandra, Crippa, Beatrice Letizia, Colombo, Lorenzo, Villa, Roberta, Menni, Francesca, Giavoli, Claudia, Mosca, Fabio, Bedeschi, Maria Francesca

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Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature von Picciolli, Irene, Ratti, Angelo, Rinaldi, Berardo, Baban, Anwar, Iascone, Maria, Francescato, Gaia, Cappelleri, Alessia, Magliozzi, Monia, Novelli, Antonio, Parlapiano, Giovanni, Colli, Anna Maria, Persico, Nicola, Carugo, Stefano, Mosca, Fabio, Bedeschi, Maria Francesca

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Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients von Ghisleni, Cecilia, Parma, Barbara, Cianci, Paola, De Paoli, Anita, Pangallo, Elisabetta, Agovino, Teresa, Cereda, Anna, Bedeschi, Maria Francesca, Villa, Roberta, Fossati, Chiara, Modena, Piergiorgio, Giudici, Carolina, Morando, Carla, Memo, Luigi, Onesimo, Roberta, Zampino, Giuseppe, Salvatore, Silvia, Agosti, Massimo, Selicorni, Angelo

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Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study von Lunati, Maria Elena, Bedeschi, Maria Francesca, Resi, Veronica, Grancini, Valeria, Palmieri, Eva, Salera, Simona, Lalatta, Faustina, Pugliese, Giuseppe, Orsi, Emanuela

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A long way to syndromic short stature von Gaudioso, Federica, Meossi, Camilla, Pezzani, Lidia, Grilli, Federico, Silipigni, Rosamaria, Russo, Silvia, Masciadri, Maura, Vimercati, Alessandro, Marchisio, Paola Giovanna, Bedeschi, Maria Francesca, Milani, Donatella

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Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature von Consales, Alessandra, Ardemani, Giulia, Cinnante, Claudia Maria, Catalano, Mariana Rita, Giavoli, Claudia, Villa, Roberta, Iascone, Maria, Fontana, Camilla, Bedeschi, Maria Francesca, Fumagalli, Monica

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Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient von Ballarati, Lucia, Recalcati, Maria Paola, Bedeschi, Maria Francesca, Lalatta, Faustina, Valtorta, Chiara, Bellini, Melissa, Finelli, Palma, Larizza, Lidia, Giardino, Daniela

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Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile von Ciolfi, Andrea, Foroutan, Aidin, Capuano, Alessandro, Pedace, Lucia, Travaglini, Lorena, Pizzi, Simone, Andreani, Marco, Miele, Evelina, Invernizzi, Federica, Reale, Chiara, Panteghini, Celeste, Iascone, Maria, Niceta, Marcello, Gavrilova, Ralitza H, Schultz-Rogers, Laura, Agolini, Emanuele, Bedeschi, Maria Francesca, Prontera, Paolo, Garibaldi, Matteo, Galosi, Serena, Leuzzi, Vincenzo, Soliveri, Paola, Olson, Rory J, Zorzi, Giovanna S, Garavaglia, Barbara M, Tartaglia, Marco, Sadikovic, Bekim

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Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome von Flex, Elisabetta, Ciolfi, Andrea, Caputo, Viviana, Fodale, Valentina, Leoni, Chiara, Melis, Daniela, Bedeschi, Maria Francesca, Mazzanti, Laura, Pizzuti, Antonio, Tartaglia, Marco, Zampino, Giuseppe

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A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome von Fumagalli, Monica, Ronchi, Dario, Bedeschi, Maria Francesca, Manini, Arianna, Cristofori, Gloria, Mosca, Fabio, Dilena, Robertino, Sciacco, Monica, Zanotti, Simona, Piga, Daniela, Ardissino, Gianluigi, Triulzi, Fabio, Corti, Stefania, Comi, Giacomo P., Salviati, Leonardo

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Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology von Moresco, Giada, Rondinone, Ornella, Mauri, Alessia, Costanza, Jole, Santaniello, Carlo, Colapietro, Patrizia, Micaglio, Emanuele, Marfia, Giovanni, Pesenti, Chiara, Grilli, Federico, Rinaldi, Berardo, Prada, Elisabetta, Scuvera, Giulietta, Villa, Roberta, Bedeschi, Maria Francesca, Miozzo, Monica Rosa, Milani, Donatella, Fontana, Laura

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Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature von Vignoli, Aglaia, Borgatti, Renato, Peron, Angela, Zucca, Claudio, Ballarati, Lucia, Bonaglia, Clara, Bellini, Melissa, Giordano, Lucio, Romaniello, Romina, Bedeschi, Maria Francesca, Epifanio, Roberta, Russo, Silvia, Caselli, Rossella, Giardino, Daniela, Darra, Francesca, La Briola, Francesca, Banderali, Giuseppe, Canevini, Maria Paola

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Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management von Pezzoli, Laura, Pezzani, Lidia, Bonanomi, Ezio, Marrone, Chiara, Scatigno, Agnese, Cereda, Anna, Bedeschi, Maria Francesca, Selicorni, Angelo, Gasperini, Serena, Bini, Paolo, Maitz, Silvia, Maccioni, Carla, Pedron, Cristina, Colombo, Lorenzo, Marchetti, Daniela, Bellini, Matteo, Lincesso, Anna Rita, Perego, Loredana, Pingue, Monica, Della Malva, Nunzia, Mangili, Giovanna, Ferrazzi, Paolo, Iascone, Maria

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Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? von Beltrami, Benedetta, Cerasani, Jacopo, Consales, Alessandra, Villa, Roberta, Resta, Nicoletta, Loconte, Daria Carmela, Boito, Simona, Caschera, Luca, Bassi, Laura, Colombo, Lorenzo, Iascone, Maria, Bedeschi, Maria Francesca

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