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Published in Genome medicine (13.06.2022)
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Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1
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Published in Genes (09.10.2020)
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Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family
Bigoni, Stefania, Neri, Marcella, Scotton, Chiara, Farina, Roberto, Sabatelli, Patrizia, Jiang, Chongyi, Zhang, Jianguo, Falzarano, Maria Sofia, Rossi, Rachele, Ognibene, Davide, Selvatici, Rita, Gualandi, Francesca, Bosshardt, Dieter, Perri, Paolo, Campa, Claudio, Brancati, Francesco, Salvatore, Marco, De Stefano, Maria Chiara, Taruscio, Domenica, Trombelli, Leonardo, Fang, Mingyan, Ferlini, Alessandra
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Published in Frontiers in genetics (2019)
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A novel mutation of BEST1 gene in Best disease
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Published in European journal of ophthalmology (01.05.2021)
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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
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, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A, Grebe, Theresa, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, 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, Somorai, Marta, Helbig, Katherine L, Helbig, Ingo, Ortiz-González, Xilma R, Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S, Rubboli, Guido
Published in Neurology. Genetics (01.12.2021)
Published in Neurology. Genetics (01.12.2021)
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