Living with phenylketonuria in adulthood: The PKU ATTITUDE study by Cazzorla, Chiara, Bensi, Giulia, Biasucci, Giacomo, Leuzzi, Vincenzo, Manti, Filippo, Musumeci, Antonella, Papadia, Francesco, Stoppioni, Vera, Tummolo, Albina, Vendemiale, Marcella, Polo, Giulia, Burlina, Alberto

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Missense Mutation in the Transcription Factor NKX2–5: A Novel Molecular Event in the Pathogenesis of Thyroid Dysgenesis by Dentice, Monica, Cordeddu, Viviana, Rosica, Annamaria, Ferrara, Alfonso Massimiliano, Santarpia, Libero, Salvatore, Domenico, Chiovato, Luca, Perri, Anna, Moschini, Lidia, Fazzini, Cristina, Olivieri, Antonella, Costa, Pietro, Stoppioni, Vera, Baserga, Mariangiola, De Felice, Mario, Sorcini, Mariella, Fenzi, Gianfranco, Di Lauro, Roberto, Tartaglia, Marco, Macchia, Paolo Emidio

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The Genetic Landscape and Epidemiology of Phenylketonuria by Hillert, Alicia, Anikster, Yair, Belanger-Quintana, Amaya, Burlina, Alberto, Burton, Barbara K., Carducci, Carla, Chiesa, Ana E., Christodoulou, John, Đorđević, Maja, Desviat, Lourdes R., Eliyahu, Aviva, Evers, Roeland A.F., Fajkusova, Lena, Feillet, François, Bonfim-Freitas, Pedro E., Giżewska, Maria, Gundorova, Polina, Karall, Daniela, Kneller, Katya, Kutsev, Sergey I., Leuzzi, Vincenzo, Levy, Harvey L., Lichter-Konecki, Uta, Muntau, Ania C., Namour, Fares, Oltarzewski, Mariusz, Paras, Andrea, Perez, Belen, Polak, Emil, Polyakov, Alexander V., Porta, Francesco, Rohrbach, Marianne, Scholl-Bürgi, Sabine, Spécola, Norma, Stojiljković, Maja, Shen, Nan, Santana-da Silva, Luiz C., Skouma, Anastasia, van Spronsen, Francjan, Stoppioni, Vera, Thöny, Beat, Trefz, Friedrich K., Vockley, Jerry, Yu, Youngguo, Zschocke, Johannes, Hoffmann, Georg F., Garbade, Sven F., Blau, Nenad

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Il percorso diagnostico terapeutico del paziente con ipotiroidismo congenito: dalla migliore pratica clinica all’organizzazione territoriale delle strutture dedicate by Vigone, Maria Cristina, Cassio, Alessandra, Cesaretti, Graziano, Corbetta, Carlo, Gastaldi, Roberto, Salerno, Mariacarolina, Stoppioni, Vera, Tonacchera, Massimo, Weber, Giovanna, Olivieri, Antonella

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Parental Burden and its Correlates in Families of Children with Autism Spectrum Disorder: A Multicentre Study with Two Comparison Groups by Picardi, Angelo, Gigantesco, Antonella, Tarolla, Emanuele, Stoppioni, Vera, Cerbo, Renato, Cremonte, Maurizio, Alessandri, Guido, Lega, Ilaria, Nardocci, Franco

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Individual common variants exert weak effects on the risk for autism spectrum disorders by Anney, Richard, Klei, Lambertus, Pinto, Dalila, Almeida, Joana, Bacchelli, Elena, Baird, Gillian, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Casey, Jillian, Conroy, Judith, Correia, Catarina, Corsello, Christina, Crawford, Emily L, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Green, Andrew, Green, Jonathan, Guter, Stephen J, Heron, Elizabeth A, Holt, Richard, Howe, Jennifer L, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Jacob, Suma, Kenny, Graham P, Kim, Cecilia, Kolevzon, Alexander, Kustanovich, Vlad, Lajonchere, Clara M, Lamb, Janine A, Law-Smith, Miriam, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Liu, Xiao-Qing, Lombard, Frances, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C, Magalhaes, Tiago R, Mantoulan, Carine, McDougle, Christopher J, Melhem, Nadine M, Merikangas, Alison, Minshew, Nancy J, Mirza, Ghazala K, Munson, Jeff, Noakes, Carolyn, Nygren, Gudrun, Papanikolaou, Katerina, Pagnamenta, Alistair T, Parrini, Barbara, Paton, Tara, Pickles, Andrew, Posey, David J, Poustka, Fritz, Ragoussis, Jiannis, Regan, Regina, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L, Schlitt, Sabine, Shah, Naisha, Sheffield, Val C, Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Sykes, Nuala, Tancredi, Raffaella, Thompson, Ann P, Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B, Volkmar, Fred, Vorstman, J A S, Wallace, Simon, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Bailey, Anthony J

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Individual common variants exert weak effects on the risk for autism spectrum disorderspi by ANNEY, Richard, KLEI, Lambertus, BRENNAN, Sean, BRIAN, Jessica, CASEY, Jillian, CONROY, Judith, CORREIA, Catarina, CORSELLO, Christina, CRAWFORD, Emily L, DE JONGE, Maretha, DELORME, Richard, DUKETIS, Eftichia, PINTO, Dalila, DUQUE, Frederico, ESTES, Annette, FARRAR, Penny, FERNANDEZ, Bridget A, FOLSTEIN, Susan E, FOMBONNE, Eric, GILBERT, John, GILLBERG, Christopher, GLESSNER, Joseph T, GREEN, Andrew, ALMEIDA, Joana, GREEN, Jonathan, GUTER, Stephen J, HERON, Elizabeth A, HOLT, Richard, HOWE, Jennifer L, HUGHES, Gillian, HUS, Vanessa, IGLIOZZI, Roberta, JACOB, Suma, KENNY, Graham P, BACCHELLI, Elena, KIM, Cecilia, KOLEVZON, Alexander, KUSTANOVICH, Vlad, LAJONCHERE, Clara M, LAMB, Janine A, LAW-SMITH, Miriam, LEBOYER, Marion, LE COUTEUR, Ann, LEVENTHAL, Bennett L, LIU, Xiao-Qing, BAIRD, Gillian, LOMBARD, Frances, LORD, Catherine, LOTSPEICH, Linda, LUND, Sabata C, MAGALHAES, Tiago R, MANTOULAN, Carine, MCDOUGLE, Christopher J, MELHEM, Nadine M, MERIKANGAS, Alison, MINSHEW, Nancy J, BOLSHAKOVA, Nadia, BÖLTE, Sven, BOLTON, Patrick F, BOURGERON, Thomas

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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder by Casey, Jillian P., Magalhaes, Tiago, Conroy, Judith M., Regan, Regina, Shah, Naisha, Anney, Richard, Shields, Denis C., Almeida, Joana, Bacchelli, Elena, Battaglia, Agatino, Berney, Tom, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Cali, Phil, Correia, Catarina, Corsello, Christina, Coutanche, Marc, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Foley, Suzanne, Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Green, Jonathan, Holt, Richard, Hus, Vanessa, Klauck, Sabine M., Le Couteur, Ann, Leventhal, Bennett L., Lord, Catherine, Maestrini, Elena, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McMahon, William M., Merikangas, Alison, Minopoli, Fiorella, Mirza, Ghazala K., Munson, Jeff, Nygren, Gudrun, Oliveira, Guiomar, Pagnamenta, Alistair T., Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Pickles, Andrew, Pinto, Dalila, Piven, Joseph, Posey, David J., Poustka, Annemarie, Poustka, Fritz, Ragoussis, Jiannis, Rutter, Michael L., Soorya, Latha, Sousa, Inês, Tancredi, Raffaella, Tauber, Maïté, Thompson, Ann P., Thomson, Susanne, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Vorstman, Jacob A. S., Wang, Kai, Wassink, Thomas H., White, Kathy, Wing, Kirsty, Wittemeyer, Kerstin, Yaspan, Brian L., Zwaigenbaum, Lonnie, Betancur, Catalina, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Geschwind, Daniel H., Monaco, Anthony P., Nurnberger, John I., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Sutcliffe, James S., Szatmari, Peter, Wijsman, Ellen M., Green, Andrew, Gill, Michael, Gallagher, Louise, Vicente, Astrid, Ennis, Sean

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Acute psychosis in an adolescent with undiagnosed homocystinuria by Colafrancesco, Giada, Di Marzio, Giulia Maria, Abbracciavento, Giuseppe, Stoppioni, Vera, Leuzzi, Vincenzo, Ferrara, Mauro

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Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders by Anney, Richard J L, Kenny, Elaine M, O'Dushlaine, Colm, Yaspan, Brian L, Parkhomenka, Elena, Buxbaum, Joseph D, Sutcliffe, James, Gill, Michael, Gallagher, Louise

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Aggiornamento sulla nutrizione iodica in Italia: i risultati della seconda sorveglianza dell’Osservatorio per il Monitoraggio della Iodoprofilassi in Italia-OSNAMI (2015-2019) by De Angelis, Simona, Rotondi, Daniela, Gilardi, Enzo, Stacchini, Paolo, Pastorelli, Augusto Alberto, Sorbo, Angela, D’Amato, Marilena, Turco, Anna Chiara, Medda, Emanuela, Da Cas, Roberto, Andò, Sebastiano, Bonofiglio, Daniela, Bagnasco, Marcello, Gasperi, Maurizio, Meringolo, Domenico, Mian, Caterina, Puxeddu, Efisio, Regalbuto, Concetto, Moleti, Mariacarla, Taccaliti, Augusto, Ulisse, Salvatore, Tonacchera, Massimo, Tanda, Maria Laura, Boi, Francesco, Ruggiero, Valeria, Mariotti, Stefano, Corbetta, Carlo, Ciatti, Renzo, Tarsi, Elisabetta, Stoppioni, Vera, Perrotti, Nicola, Marasco, Onorina, Scozzafava, Giovanna, Camilot, Marta, Teofoli, Francesca, Righetti, Francesca, Dimida, Antonio, Plutino, Giuseppe, Carrano, Elena, Copparoni, Roberto, Gabbianelli, Marco, Vitti, Paolo, Olivieri, Antonella

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