Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal von West, Hannah D., Nellist, Mark, Brouwer, Rutger W. W., van den Hout-van Vroonhoven, Mirjam C. G. N., de Almeida, Luiz Gustavo Dufner, Hendriks, Femke, Elfferich, Peter, Raja, Meera, Giles, Peter, Alfano, Rosa M., Peron, Angela, Sznajer, Yves, De Waele, Liesbeth, Jansen, Anna, Koopmans, Marije, Kievit, Anneke, Farach, Laura S., Northrup, Hope, Sampson, Julian R., Thomas, Laura E., van IJcken, Wilfred F. J.

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Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis von Di Marco, Fabiano, Terraneo, Silvia, Imeri, Gianluca, Palumbo, Giuseppina, La Briola, Francesca, Tresoldi, Silvia, Volpi, Angela, Gualandri, Lorenzo, Ghelma, Filippo, Alfano, Rosa Maria, Montanari, Emanuele, Gorio, Alfredo, Lesma, Elena, Peron, Angela, Canevini, Maria Paola, Centanni, Stefano

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Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly von Calcaterra, Valeria, Lamberti, Rossella, Viggiano, Claudia, Baldassarre, Paola, Spaccini, Luigina, Alfano, Rosa Maria, Izzo, Giana, Valentini, Laura Grazia, Zuccotti, Gianvincenzo

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P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity von Peron, Angela, Alfano, Rosa Maria, Moore, Barry, Nellist, Mark, Pedersen, Brent, La Briola, Francesca, Spaccini, Luigina, Natacci, Federica, Recalcati, Maria Paola, Chiesa, Valentina, Arancio, Rosangela, Cavallari, Ugo, Vannicola, Chiara, Cefalo, Graziella, Maitz, Silvia, Bigoni, Stefania, Gualandri, Lorenzo, Gervasini, Cristina, Veggiotti, Pierangelo, van Ijcken, Wilfred, Vignoli, Aglaia, Bulfamante, Gaetano Pietro, Carey, John, Canevini, Maria Paola

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Tuberous sclerosis complex: new insights into clinical and therapeutic approach von Volpi, Angela, Sala, Gabriele, Lesma, Elena, Labriola, Francesca, Righetti, Marco, Alfano, Rosa Maria, Cozzolino, Mario

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Epilepsy in TSC: Certain etiology does not mean certain prognosis von Vignoli, Aglaia, Briola, Francesca La, Turner, Katherine, Scornavacca, Giulia, Chiesa, Valentina, Zambrelli, Elena, Piazzini, Ada, Savini, Miriam Nella, Alfano, Rosa Maria, Canevini, Maria Paola

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p53, p16 and ki67 as immunohistochemical prognostic markers in uterine smooth muscle tumors of uncertain malignant potential (STUMP) von Travaglino, Antonio, Raffone, Antonio, Gencarelli, Annarita, Neola, Daniele, Oliviero, Domenico Alessandro, Alfano, Rosa, Campanino, Maria Raffaela, Cariati, Federica, Zullo, Fulvio, Mollo, Antonio, Insabato, Luigi

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Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal von West, Hannah D, Nellist, Mark, Brouwer, Rutger W.W, van den Hout-van Vroonhoven, Mirjam C.G.N, de Almeida, Luiz Gustavo Dufner, Hendriks, Femke, Elfferich, Peter, Raja, Meera, Giles, Peter, Alfano, Rosa M, Peron, Angela, Sznajer, Yves, De Waele, Liesbeth, Jansen, Anna, Koopmans, Marije, Kievit, Anneke, Farach, Laura S, Northrup, Hope, Sampson, Julian R, Thomas, Laura E, van IJcken, Wilfred F.J

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Natural history of adults with KBG syndrome: A physician-reported experience von Bayat, Allan, Grimes, Hannah, de Boer, Elke, Herlin, Morten Krogh, Dahl, Rebekka Staal, Lund, Ida Charlotte Bay, Bayat, Michael, Bolund, Anneli Clea Skjelmose, Gjerulfsen, Cathrine Elisabeth, Gregersen, Pernille Axél, Zilmer, Monica, Juhl, Stefan, Cebula, Katarzyna, Rahikkala, Elisa, Maystadt, Isabelle, Peron, Angela, Vignoli, Aglaia, Alfano, Rosa Maria, Stanzial, Franco, Benedicenti, Francesco, Currò, Aurora, Luk, Ho-Ming, Jouret, Guillaume, Zurita, Ella, Heuft, Lara, Schnabel, Franziska, Busche, Andreas, Veenstra-Knol, Hermine Elisabeth, Tkemaladze, Tinatin, Vrielynck, Pascal, Lederer, Damien, Platzer, Konrad, Ockeloen, Charlotte Wilhelmina, Goel, Himanshu, Low, Karen Jaqueline

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Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 von Peron, Angela, Vignoli, Aglaia, Briola, Francesca La, Morenghi, Emanuela, Tansini, Lucia, Alfano, Rosa Maria, Bulfamante, Gaetano, Terraneo, Silvia, Ghelma, Filippo, Banderali, Giuseppe, Viskochil, David H., Carey, John C., Canevini, Maria Paola

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Glioblastoma multiforme in a child with tuberous sclerosis complex von Vignoli, Aglaia, Lesma, Elena, Alfano, Rosa Maria, Peron, Angela, Scornavacca, Giulia Federica, Massimino, Maura, Schiavello, Elisabetta, Ancona, Silvia, Cerati, Michele, Bulfamante, Gaetano, Gorio, Alfredo, Canevini, Maria Paola

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A novel TSC2 mutation causing tuberless tuberous sclerosis von Giannantoni, Nadia Mariagrazia, Restuccia, Domenico, Della Marca, Giacomo, Alfano, Rosa Maria, Vollono, Catello

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Platelet and immune signature associated with a rapid response to the BNT162b2 mRNA COVID‐19 vaccine von Flego, Davide, Cesaroni, Simone, Romiti, Giulio F., Corica, Bernadette, Marrapodi, Ramona, Scafa, Noemi, Maiorca, Francesca, Lombardi, Ludovica, Pallucci, Davide, Pulcinelli, Fabio, Raparelli, Valeria, Visentini, Marcella, Cangemi, Roberto, Piconese, Silvia, Alvaro, Domenico, Polimeni, Antonella, Basili, Stefania, Stefanini, Lucia

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Isolation and Growth of Smooth Muscle-Like Cells Derived from Tuberous Sclerosis Complex-2 Human Renal Angiomyolipoma von Lesma, Elena, Grande, Vera, Carelli, Stephana, Brancaccio, Diego, Canevini, Maria Paola, Alfano, Rosa Maria, Coggi, Guido, Di Giulio, Anna Maria, Gorio, Alfredo

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Sex-specific clinical and neurobiological correlates of fatigue in older adults von Toccaceli Blasi, Marco, Alfano, Alba Rosa, Salzillo, Martina, Buscarnera, Simona, Raparelli, Valeria, Cesari, Matteo, Bruno, Giuseppe, Canevelli, Marco

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Angiogenesis in colorectal tumors : microvessel quantitation in adenomas and carcinomas with clinicopathological correlations von BOSSI, P, VIALE, G, LEE, A. K. C, ALFANO, R, COGGI, G, BOSARI, S

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Persistent dysexecutive syndrome after pneumococcal meningitis complicated by recurrent ischemic strokes: A case report von Abbruzzese, Laura, Martinelli, Giulia, Salti, Giulia, Basagni, Benedetta, Damora, Alessio, Scarselli, Cristiano, Peppoloni, Giulia, Podgorska, Aleksandra, Rosso, Giuliana, Bacci, Marco, Alfano, Alba Rosa, MANCUSO, MAURO

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Magnetic resonance imaging of renal involvement in genetically studied patients with tuberous sclerosis complex von Pompili, Giovanni, Zirpoli, Salvatore, Sala, Chiara, Flor, Nicola, Alfano, Rosa Maria, Volpi, Angela, Brancaccio, Diego, Sardanelli, Francesco, Cornalba, Gianpaolo

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Isolation and Growth of Smooth Muscle-Like Cells Derived from Tuberous Sclerosis Complex-2 Human Renal Angiomyolipoma: Epidermal Growth Factor Is the Required Growth Factor von Lesma, Elena, Grande, Vera, Carelli, Stephana, Brancaccio, Diego, Canevini, Maria Paola, Alfano, Rosa Maria, Coggi, Guido, Di Giulio, Anna Maria, Gorio, Alfredo

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Association between PaO2/FiO2 ratio and thrombotic events in COVID-19 patients von Loffredo, Lorenzo, Pignatelli, Pasquale, Pirro, Matteo, Ceccarelli, Giancarlo, Oliva, Alessandra, Maggio, Enrico, Cancelli, Francesca, D’Ardes, Damiano, Amitrano, Maria, Zicari, Anna Maria, Cinicola, Bianca Laura, Taliani, Gloria, Cangemi, Roberto, Lichtner, Miriam, Falcone, Marco, Orlando, Federica, Pugliese, Francesco, Venditti, Mario, Mastroianni, Claudio Maria, Violi, Francesco

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