Living with phenylketonuria in adulthood: The PKU ATTITUDE study von 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 von 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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Risk factors for congenital hypothyroidism: results of a population case-control study (1997–2003) von Medda, Emanuela, Olivieri, Antonella, Stazi, Maria Antonietta, Grandolfo, Michele E, Fazzini, Cristina, Baserga, Mariangiola, Burroni, Massimo, Cacciari, Emanuele, Calaciura, Francesca, Cassio, Alessandra, Chiovato, Luca, Costa, Pietro, Leonardi, Daniela, Martucci, Maria, Moschini, Lidia, Pagliardini, Severo, Parlato, Giuseppe, Pignero, Alberto, Pinchera, Aldo, Sala, Danielle, Sava, Lidia, Stoppioni, Vera, Tancredi, Francesco, Valentini, Fabiola, Vigneri, Riccardo, Sorcini, Mariella

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

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The Genetic Landscape and Epidemiology of Phenylketonuria von 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 von 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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Individual common variants exert weak effects on the risk for autism spectrum disorders von 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 von 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 von 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 von 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 von 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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In congenital hypothyroidism bone maturation at birth may be a predictive factor of psychomotor development during the first year of life irrespective of other variables related to... von WASNIEWSKA, Malgorzata, DE LUCA, Filippo, VALENZISE, Mariella, ARRIGO, Teresa, CASSIO, Alessandra, OGGIARO, Nicola, GIANINO, Paola, DELVECCHIO, Maurizio, AIAZZI, Rosalba, STOPPIONI, Vera, LOMBARDO, Fortunato, MESSINA, Maria Francesca

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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) von 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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Functional impact of global rare copy number variation in autism spectrum disorders von Pinto, Dalila, Pagnamenta, Alistair T, Klei, Lambertus, Anney, Richard, Conroy, Judith, Magalhaes, Tiago R, Abrahams, Brett S, Almeida, Joana, Bader, Gary D, Baird, Gillian, Berney, Tom, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F, Brennan, Sean, Casallo, Guillermo, Casey, Jillian, Chung, Brian H Y, Cochrane, Lynne, Corsello, Christina, Cytrynbaum, Cheryl, Dawson, Geraldine, De Jonge, Maretha, Drmic, Irene, Farrar, Penny, Fernandez, Bridget A, Fombonne, Eric, Freitag, Christine M, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Green, Andrew, Green, Jonathan, Guter, Stephen J, Hakonarson, Hakon, Hill, Matthew, Holt, Richard, Igliozzi, Roberta, Klauck, Sabine M, Kolevzon, Alexander, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M, Lamb, Janine A, Leboyer, Marion, Leventhal, Bennett L, Lionel, Anath C, Maestrini, Elena, Mantoulan, Carine, McDougle, Christopher J, McGrath, Jane, Merikangas, Alison, Migita, Ohsuke, Munson, Jeff, Nygren, Gudrun, Oliveira, Guiomar, Papanikolaou, Katerina, Paton, Tara, Pickles, Andrew, Pilorge, Marion, Ponting, Chris P, Posey, David J, Poustka, Fritz, Prasad, Aparna, Ragoussis, Jiannis, Rickaby, Jessica, Roeder, Kathryn, Rice, John P, Sansom, Katherine, Senman, Lili, Sheffield, Val C, Sousa, Ins, Stein, Olaf, Sykes, Nuala, Stoppioni, Vera, Strawbridge, Christina, Tancredi, Raffaella, Van Engeland, Herman, Wallace, Simon, Wassink, Thomas H, Wittemeyer, Kerstin, Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Buxbaum, Joseph D, Cantor, Rita M, Cook, Edwin H, Coon, Hilary, Devlin, Bernie, Ennis, Sean, Gallagher, Louise, Geschwind, Daniel H, Haines, Jonathan L, Hallmayer, Joachim, Monaco, Anthony P, Nurnberger, John I, Schellenberg, Gerard D, Szatmari, Peter, Vieland, Veronica J, Wijsman, Ellen M, Sutcliffe, James S

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Geographical Epidemiology of Neonatal Transitory Hypothyroidism. Trend Evidence in Central Italian Region von Rocchi, M.B.L., Sisti, D., Albertini, M.C., Burroni, G., Stoppioni, V., Ciatti, R., Burroni, M.

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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder von Casey, Jillian P

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