New insights on Noonan syndrome's clinical phenotype: a single center retrospective study von Baldo, Francesco, Fachin, Alice, Da Re, Beatrice, Rubinato, Elisa, Bobbo, Marco, Barbi, Egidio

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Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss von Morgan, Anna, Vuckovic, Dragana, Krishnamoorthy, Navaneethakrishnan, Rubinato, Elisa, Ambrosetti, Umberto, Castorina, Pierangela, Franzè, Annamaria, Vozzi, Diego, La Bianca, Martina, Cappellani, Stefania, Di Stazio, Mariateresa, Gasparini, Paolo, Girotto, Giorgia

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Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders von Tesolin, Paola, Santin, Aurora, Morgan, Anna, Lenarduzzi, Stefania, Rubinato, Elisa, Girotto, Giorgia, Spedicati, Beatrice

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The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population von Spedicati, Beatrice, Santin, Aurora, Nardone, Giuseppe Giovanni, Rubinato, Elisa, Lenarduzzi, Stefania, Graziano, Claudio, Garavelli, Livia, Miccoli, Sara, Bigoni, Stefania, Morgan, Anna, Girotto, Giorgia

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PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review von Mercati, Oriane, Abi Warde, Marie-Thérèse, Lina-Granade, Geneviève, Rio, Marlène, Heide, Solveig, de Lonlay, Pascale, Ceballos-Picot, Irène, Robert, Matthieu P., Couloigner, Vincent, Beltrand, Jacques, Boddaert, Nathalie, Rodriguez, Diana, Rubinato, Elisa, Lapierre, Jean-Michel, Merlette, Christophe, Sanquer, Sylvia, Rötig, Agnès, Prokisch, Holger, Lyonnet, Stanislas, Loundon, Natalie, Kaplan, Josseline, Bonnefont, Jean-Paul, Munnich, Arnold, Besmond, Claude, Jonard, Laurence, Marlin, Sandrine

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Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report von Caiffa, Thomas, Tessitore, Antimo, Leoni, Loira, Reffo, Elena, Chicco, Daniela, D'Agata Mottolese, Biancamaria, Rubinato, Elisa, Girotto, Giorgia, Lenarduzzi, Stefania, Barbi, Egidio, Bobbo, Marco, Di Salvo, Giovanni

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Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment von Jonard, Laurence, Brotto, Davide, Moreno-Pelayo, Miguel A., del Castillo, Ignacio, Kremer, Hannie, Pennings, Ronald, Caria, Helena, Fialho, Graça, Boudewyns, An, Van Camp, Guy, Ołdak, Monika, Oziębło, Dominika, Deggouj, Naïma, De Siati, Romolo Daniele, Gasparini, Paolo, Girotto, Giorgia, Verstreken, Margriet, Dossena, Silvia, Roesch, Sebastian, Battelino, Saba, Trebušak Podkrajšek, Katarina, Warnecke, Athanasia, Lenarz, Thomas, Lesinski-Schiedat, Anke, Mondain, Michel, Roux, Anne-Françoise, Denoyelle, Françoise, Loundon, Natalie, Serey Gaut, Margaux, Trevisi, Patrizia, Rubinato, Elisa, Martini, Alessandro, Marlin, Sandrine

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A Girl with Photosensitivity and Hepatic Steatosis von Pavan, Matteo, MD, Gortani, Giulia, MD, Rubinato, Elisa, MD, Faletra, Flavio, MD, Pastore, Serena, MD, Ventura, Alessandro, MD

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A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta von Rubinato, Elisa, Morgan, Anna, D'Eustacchio, Angela, Pecile, Vanna, Gortani, Giulia, Gasparini, Paolo, Faletra, Flavio

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Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures von Spedicati, Beatrice, Morgan, Anna, Pianigiani, Giulia, Musante, Luciana, Rubinato, Elisa, Santin, Aurora, Nardone, Giuseppe Giovanni, Faletra, Flavio, Girotto, Giorgia

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MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review von Rubinato, Elisa, Rondeau, Sophie, Giuliano, Fabienne, Kossorotoff, Manoelle, Parodi, Marine, Gherbi, Souad, Steffan, Julie, Jonard, Laurence, Marlin, Sandrine

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TBL1Y: a new gene involved in syndromic hearing loss von Di Stazio, Mariateresa, Collesi, Chiara, Vozzi, Diego, Liu, Wei, Myers, Mike, Morgan, Anna, D Adamo, Pio Adamo, Girotto, Giorgia, Rubinato, Elisa, Giacca, Mauro, Gasparini, Paolo

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Pendred Syndrome, or Not Pendred Syndrome? That Is the Question von Tesolin, Paola, Fiorino, Sofia, Lenarduzzi, Stefania, Rubinato, Elisa, Cattaruzzi, Elisabetta, Ammar, Lydie, Castro, Veronica, Orzan, Eva, Granata, Claudio, Dell'Orco, Daniele, Morgan, Anna, Girotto, Giorgia

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Obstructive Jaundice in a 3‐Month‐Old Baby von Amaddeo, Alessandro, Rubinato, Elisa, Schleef, Jurgen, Olenik, Damiana, Giglia, Domenica, Marchetti, Federico, Ventura, Alessandro

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PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss von Girotto, Giorgia, Scheffer, Déborah I., Morgan, Anna, Vozzi, Diego, Rubinato, Elisa, Di Stazio, Mariateresa, Muzzi, Enrico, Pensiero, Stefano, Giersch, Anne B., Corey, David P., Gasparini, Paolo

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PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss von Girotto, Giorgia, Scheffer, Déborah I, Morgan, Anna, Vozzi, Diego, Rubinato, Elisa, Di Stazio, Mariateresa, Muzzi, Enrico, Pensiero, Stefano, Giersch, Anne B, Corey, David P, Gasparini, Paolo

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New insights on Noonan syndrome's clinical phenotype: a single center retrospective study von Baldo, Francesco, Fachin, Alice, Da Re, Beatrice, Rubinato, Elisa, Bobbo, Marco, Barbi, Egidio

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The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population von Spedicati, Beatrice, Santin, Aurora, Nardone, Giuseppe Giovanni, Rubinato, Elisa, Lenarduzzi, Stefania, Graziano, Claudio, Garavelli, Livia, Miccoli, Sara, Bigoni, Stefania, Morgan, Anna, Girotto, Giorgia

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Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report von Caiffa, Thomas, Tessitore, Antimo, Leoni, Loira, Reffo, Elena, Chicco, Daniela, D'Agata Mottolese, Biancamaria, Rubinato, Elisa, Girotto, Giorgia, Lenarduzzi, Stefania, Barbi, Egidio, Bobbo, Marco, Di Salvo, Giovanni

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