المؤلفون: Sarli, Camilla, van der Laan, Liselot, Reilly, Jack, Trajkova, Slavica, Carli, Diana, Brusco, Alfredo, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Tedder, Matthew L., Skinner, Cindy, Alders, Mariëlle, Henneman, Peter, Hennekam, Raoul C. M., Ciaccio, Claudia, D'Arrigo, Stefano, Vitobello, Antonio, Faivre, Laurence, Weber, Sacha, Vincent‐Devulder, Aline, Perrin, Laurence, Bourgois, Alexia, Yamamoto, Toshiyuki, Metcalfe, Kay, Zollino, Marcella, Kini, Usha, Oliveira, Daniela, Sousa, Sergio B., Williams, Denise, Cappuccio, Gerarda, Sadikovic, Bekim, Brunetti‐Pierri, Nicola

المساهمون: Fondazione Telethon

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; ISSN 1552-4868 1552-4876

الإتاحة: https://doi.org/10.1002/ajmg.c.32089Test

المؤلفون: Freri, Elena, Canafoglia, Laura, Ciaccio, Claudia, Rossi Sebastiano, Davide, Caputo, Davide, Solazzi, Roberta, Sciacca, Francesca L., Iascone, Maria, Panzica, Ferruccio, Granata, Tiziana, Franceschetti, Silvana, Nardocci, Nardo

المساهمون: Fondazione Pierfranco e Luisa Mariani, Ministero della Salute

المصدر: Movement Disorders ; ISSN 0885-3185 1531-8257

الإتاحة: https://doi.org/10.1002/mds.29793Test

المؤلفون: Pascual, Patricia, Tenorio-Castano, Jair, Mignot, Cyril, Afenjar, Alexandra, Arias, Pedro, Gallego-Zazo, Natalia, Parra, Alejandro, Miranda, Lucia, Cazalla, Mario, Silván, Cristina, Heron, Delphine, Keren, Boris, Popa, Ioana, Palomares, María, Rikeros, Emi, Ramos, Feliciano J., Almoguera, Berta, Ayuso, Carmen, Swafiri, Saoud Tahsin, Barbero, Ana Isabel Sánchez, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Morleo, Manuela, Nigro, Vicenzo, D’Arrigo, Stefano, Ciaccio, Claudia, Martin Mesa, Carmen, Paumard, Beatriz, Guillen, Gema, Anton, Ana Teresa Serrano, Jimenez, Marta Domínguez, Seidel, Veronica, Suárez, Julia, Cormier-Daire, Valerie, Consortium, The SOGRI, Nevado, Julián, Lapunzina, Pablo

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/ES/ISCIII/PI20-01053; http://zaguan.unizar.es/record/129906Test

الإتاحة: https://doi.org/10.3390/genes14091664Test
http://zaguan.unizar.es/record/129906Test

المؤلفون: De Laurentiis, Arianna, Ciaccio, Claudia, Erbetta, Alessandra, Pinelli, Michele, Nigro, Vincenzo, Pantaleoni, Chiara, D'Arrigo, Stefano

المساهمون: Banca d'Italia, Fondazione Pierfranco e Luisa Mariani, Fondazione Telethon, Horizon 2020 Framework Programme

المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 5, page 1350-1354 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.63123Test

المؤلفون: Hafdaoui, Sara, Ciaccio, Claudia, Castellotti, Barbara, Sciacca, Francesca L., Pantaleoni, Chiara, D'Arrigo, Stefano

المساهمون: Fondazione Pierfranco e Luisa Mariani

المصدر: Frontiers in Neurology ; volume 14 ; ISSN 1664-2295

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.3389/fneur.2023.1199095Test

المؤلفون: Battino, Dina, Tomson, Torbjörn, Bonizzoni, Erminio, Craig, John, Perucca, Emilio, Sabers, Anne, Thomas, Sanjeev, Alvestad, Silje, Perucca, Piero, Vajda, Frank, Pantaleoni, Chiara, Ciaccio, Claudia, Kochen, Silvia, Luef, Gerhard, De Marinis, Alejandro, Zarubova, Jana, Kälviäinen, Reetta, Kasradze, Sofia, Schmitz, Bettina, Thomas, Sanjeev V., Tabrizi, Nasim, Goldstein, Lilach, Mostacci, Barbara, Ohtani, Hideyuki, Kiteva-Trenchevska, Gordana, van Puijenbroek, Eugène, Milovanović, Maja, Šafčák, Vladimír, Martinez Ferri, Meritxell, Sellitto, Elisabeth, Yu, Hsiang-Yu, Hödl, Stephanie, Marusic, Petr, Listonova, Renata, Krijtová, Hana, Franc, David, Busek, Petr, Kajšová, Michaela, Andersen, Noemi, Pedersen, Birthe, Mieszczanek, Katarzyna, Cebula, Katarzyna, Juhl, Stefan, Forsom Sondal, Birgitte, Nielsen, Karen, Danielsen, Tatiana V.

المصدر: JAMA Neurology ; ISSN 2168-6149

الإتاحة: https://doi.org/10.1001/jamaneurol.2024.0258Test
https://jamanetwork.com/journals/jamaneurology/articlepdf/2816476/jamaneurology_battino_2024_oi_240010_1710253672.76299.pdfTest

المؤلفون: Granocchio, Elisa, Pollina, Eleonora, De Salvatore, Marinella, Scopelliti, Maria R., Tanzi, Giorgia, Sciacca, Francesca L., D'Arrigo, Stefano, Ciaccio, Claudia

المصدر: Psychiatric Genetics; Feb2024, Vol. 34 Issue 1, p19-23, 5p

المؤلفون: Lines, Matthew A., Goldenberg, Paula, Wong, Ashley, Srivastava, Siddharth, Bayat, Allan, Hove, Hanne, Karstensen, Helena Gásdal, Anyane-Yeboa, Kwame, Liao, Jun, Jiang, Nan, May, Alison, Guzman, Edwin, Morleo, Manuela, D'Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Castello, Raffaele, McKee, Shane, Ong, Jinfon, Zibdeh-Lough, Hana, Tran-Mau-Them, Frederic, Gerasimenko, Anna, Heron, Delphine, Keren, Boris, Margot, Henri, de Sainte Agathe, Jean Madeleine, Burglen, Lydie, Voets, Thomas, Vriens, Joris, Innes, A. Micheil, Dyment, David A.

المصدر: Lines , M A , Goldenberg , P , Wong , A , Srivastava , S , Bayat , A , Hove , H , Karstensen , H G , Anyane-Yeboa , K , Liao , J , Jiang , N , May , A , Guzman , E , Morleo , M , D'Arrigo , S , Ciaccio , C , Pantaleoni , C , Castello , R , McKee , S , Ong , J , Zibdeh-Lough , H , Tran-Mau-Them , F , Gerasimenko , A , Heron , D , Keren , B , Margot ....

مصطلحات موضوعية: Genematcher, global developmental delay, intellectual disability, seizures, TRPM3, Epilepsy, Humans, Infant, Newborn, Diseases, Mutation, Missense, Developmental Disabilities/genetics, Whole Exome Sequencing, Intellectual Disability/genetics, Muscle Hypotonia/genetics, TRPM Cation Channels/genetics, Child

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/29c6a551-d9c8-4cf5-a411-163a5cad88c4Test

الإتاحة: https://doi.org/10.1002/ajmg.a.62673Test
https://portal.findresearcher.sdu.dk/da/publications/29c6a551-d9c8-4cf5-a411-163a5cad88c4Test
https://findresearcher.sdu.dk/ws/files/200071127/ajmg.a.62673.pdfTest

المؤلفون: Cinquina, Valeria, Ciaccio, Claudia, Venturini, Marina, Masson, Riccardo, Ritelli, Marco, Colombi, Marina

المساهمون: Cinquina, Valeria, Ciaccio, Claudia, Venturini, Marina, Masson, Riccardo, Ritelli, Marco, Colombi, Marina

مصطلحات موضوعية: PURA, PURA syndrome, cutis laxa, hypotonia, neurodevelopmental delay, whole exome sequencing

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33275834; info:eu-repo/semantics/altIdentifier/wos/WOS:000595486300001; volume:e1562; numberofpages:10; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/11379/537015Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097044503

الإتاحة: https://doi.org/10.1002/mgg3.1562Test
http://hdl.handle.net/11379/537015Test

المؤلفون: D'Arrigo, Stefano, Loiacono, Carmela, Ciaccio, Claudia, Pantaleoni, Chiara, Faccio, Flavia, Taddei, Matilde, Bulgheroni, Sara

مصطلحات موضوعية: Fluid Flow and Transfer Processes, Computer Science Applications, Process Chemistry and Technology, General Engineering, Instrumentation, General Materials Science

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/185416Test

الإتاحة: https://doi.org/10.3390/app11020544Test
https://www.openaccessrepository.it/record/185416Test