Результати пошуку - Colavito, Davide

A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families за авторством Stabile, Mariano, Colavito, Davide, Del Giudice, Elda, Rispoli, Anna F., Ingenito, Marina C., Naumova, Anna K.

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Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis за авторством Piermarocchi, Stefano, Miotto, Stefania, Colavito, Davide, Del Giudice, Elda, Leon, Alberta, Maritan, Veronica, Piermarocchi, Rita, Tormene, Alma Patrizia

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Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review за авторством Pinon, Michele, Carboni, Michele, Colavito, Davide, Cisarò, Fabio, Peruzzi, Licia, Pizzol, Antonio, Calosso, Giulia, David, Ezio, Calvo, Pier Luigi

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Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol‐3‐phosphate dehydrogenase 1 deficiency за авторством Matarazzo, Lorenza, Ragnoni, Valentina, Malaventura, Cristina, Leon, Alberta, Colavito, Davide, Vigna, Giovanni Battista, Lanza, Giovanni, Sonzogni, Aurelio, Maggiore, Giuseppe

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Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene за авторством Colavito, Davide, Maritan, Veronica, Suppiej, Agnese, Del Giudice, Elda, Mazzarolo, Monica, Miotto, Stefania, Farina, Sofia, Dalle Carbonare, Maurizio, Piermarocchi, Stefano, Leon, Alberta

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Intrahepatic cholestasis of pregnancy: new insights into its pathogenesis за авторством Floreani, Annarosa, Caroli, Diego, Lazzari, Roberta, Memmo, Alessia, Vidali, Elisa, Colavito, Davide, Arrigo, Antonello D’, Leon, Alberta, Romero, Roberto, Gervasi, Maria Teresa

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Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel PIK3CD Variant за авторством Marzollo, Antonio, Bresolin, Silvia, Colavito, Davide, Cani, Alice, Gaio, Paola, Bosa, Luca, Mescoli, Claudia, Rossini, Linda, Barzaghi, Federica, Perilongo, Giorgio, Leon, Alberta, Biffi, Alessandra, Cananzi, Mara

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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype за авторством Napolitano, Filomena, Dell’Aquila, Milena, Terracciano, Chiara, Franzese, Giuseppina, Gentile, Maria Teresa, Piluso, Giulio, Santoro, Claudia, Colavito, Davide, Patanè, Anna, De Blasiis, Paolo, Sampaolo, Simone, Paladino, Simona, Melone, Mariarosa Anna Beatrice

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Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease за авторством Bosa, Luca, Batura, Vritika, Colavito, Davide, Fiedler, Karoline, Gaio, Paola, Guo, Conghui, Li, Qi, Marzollo, Antonio, Mescoli, Claudia, Nambu, Ryusuke, Pan, Jie, Perilongo, Giorgio, Warner, Neil, Zhang, Shiqi, Kotlarz, Daniel, Klein, Christoph, Snapper, Scott B., Walters, Thomas D., Leon, Alberta, Griffiths, Anne M., Cananzi, Mara, Muise, Aleixo M.

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+IFIH1 Loss-of-function variants contribute to Very Early Onset Inflammatory Bowel Disease за авторством Cananzi, Mara, Wohler, Elizabeth, Marzollo, Antonio, Colavito, Davide, You, Jing, Jing, Huie, Bresolin, Silvia, Gaio, Paola, Martin, Renan, Mescoli, Claudia, Bade, Sangeeta, Posey, Jennifer E., Carbonare, Maurizio Dalle, Tung, Wesley, Jhangiani, Shalini N., Bosa, Luca, Zhang, Yu, Filho, Joselito Sobreira, Gabelli, Maria, Kellermayer, Richard, Kader, Howard A., Oliva-Hemker, Maria, Perilongo, Giorgio, Lupski, James R., Biffi, Alessandra, Valle, David, Leon, Alberta, de Macena Sobreira, Nara Lygia, Su, Helen C., Guerrerio, Anthony L.

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PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum за авторством Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., Rubboli, Guido

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