المؤلفون: Bouzigon, E, Forabosco, P, Koppelman, GH, Cookson, WOCM, Dizier, MH, Duffy, DL, Evans, DM, Ferreira, MAR, Kere, J, Laitinen, T, Malerba, G, Meyers, DA, Moffatt, M, Martin, NG, Ng, MY, Pignatti, PF, Wjst, M, Kauffmann, F, Demenais, F, Lewis, CM

المصدر: European journal of human genetics : EJHG. 18(6):700-706

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:120457305Test

المؤلفون: Filosi, Michele, Kam-Thong, Tony, Essioux, Laurent, Muglia, Pierandrea, Trabetti, Elisabetta, Spooren, Will, Müller-Myshok, Bertram, Domenici, EnricoAlibrio G, Anchisi L, Andruccioli M, Benvenuto A, Battistella PA, Boscaini F, Bravaccio C, Ceppi E, Cosentino D, Curatolo P, Da Ros L, Bernardina BD, De Giacomo A, Di Vita G, Domenici E, Elia M, Gitti F, Grittani S, Lamanna AL, Mani E, Manzi B, Margari L, Masi G, Molteni M, Muglia P, Nardocci F, Pascotto A, Parmeggiani A, Pignatti PF, Piroddi T, Prandini P, Ratti E, Rizzini P, Russo S, Scifo R, Tancredi R, Tiberti A, Trabetti E, Zoccante L, Zuddas A.

المساهمون: Michele Filosi , Tony Kam-Thong , Laurent Essioux , Pierandrea Muglia , Elisabetta Trabetti , Will Spooren , Bertram Müller-Myshok , Italian Autism Network, Enrico Domenici, Antonia Parmeggiani, Filosi, Michele, Kam-Thong, Tony, Essioux, Laurent, Muglia, Pierandrea, Trabetti, Elisabetta, Spooren, Will, Müller-Myshok, Bertram, Domenici, Enricoalibrio, G, Anchisi, L, Andruccioli, M, Benvenuto, A, Battistella, Pa, Boscaini, F, Bravaccio, C, Ceppi, E, Cosentino, D, Curatolo, P, Da Ros, L, Bernardina, Bd, De Giacomo, A, Di Vita, G, Domenici, E, Elia, M, Gitti, F, Grittani, S, Lamanna, Al, Mani, E, Manzi, B, Margari, L, Masi, G, Molteni, M, Muglia, P, Nardocci, F, Pascotto, A, Parmeggiani, A, Pignatti, Pf, Piroddi, T, Prandini, P, Ratti, E, Rizzini, P, Russo, S, Scifo, R, Tancredi, R, Tiberti, A, Trabetti, E, Zoccante, L, Zuddas, A.

المصدر: Translational Psychiatry, Vol 10, Iss 1, Pp 1-12 (2020)
Translational Psychiatry

مصطلحات موضوعية: 0301 basic medicine, Autism Spectrum Disorder, autism spectrum disorders, Biology, Molecular neuroscience, Peripheral blood mononuclear cell, Article, lcsh:RC321-571, Transcriptome, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, transcriptomic signatures, mental disorders, medicine, Humans, Allele, Sibling, Autistic Disorder, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Biological Psychiatry, Genetics, Autism, genetics, neuroscience, Blood Cells, Siblings, medicine.disease, Gene expression profiling, Psychiatry and Mental health, 030104 developmental biology, Asperger syndrome, Autism spectrum disorder, Autism, 030217 neurology & neurosurgery, Biomarkers

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7865a2e657d766cda43b0851e4844c19Test
http://link.springer.com/article/10.1038/s41398-020-0778-xTest

المؤلفون: Gretarsdottir, S, Baas, AF, Thorleifsson, G, Holm, H, den Heijer, M, de Vries, JPPM, Kranendonk, SE, Zeebregts, CJAM, van Sterkenburg, SM, Geelkerken, RH, van Rij, AM, Williams, MJA, Boll, APM, Kostic, JP, Jonasdottir, A, Walters, GB, Masson, G, Sulem, P, Saemundsdottir, J, Mouy, M, Magnusson, KP, Tromp, G, Elmore, JR, Sakalihasan, N, Limet, R, Defraigne, JO, Ferrell, RE, Ronkainen, A, Ruigrok, YM, Wijmenga, C, Grobbee, DE, Shah, SH, Granger, CB, Quyyumi, AA, Vaccarino, V, Patel, RS, Zafari, AM, Levey, AI, Austin, H, Girelli, D, Pignatti, PF, Olivieri, O, Martinelli, N, Malerba, G, Trabetti, E, Becker, LC, Becker, DM, Reilly, MP, Rader, DJ, Mueller, T, Dieplinger, B, Haltmayer, M, Urbonavicius, S, Lindblad, B, Gottsater, A, Gaetani, E, Pola, R, Wells, P, Rodger, M, Forgie, M, Langlois, N, Corral, J, Vicente, V, Fontcuberta, J, Espana, F, Grarup, N, Jorgensen, T, Witte, DR, Hansen, T, Pedersen, O, Aben, KK, de Graaf, J, Holewijn, S, Folkersen, L, Franco-Cereceda, A, Eriksson, P, Collier, DA, Stefansson, H, Steinthorsdottir, V, Rafnar, T, Valdimarsson, EM, Magnadottir, HB, Sveinbjornsdottir, S, Olafsson, I, Magnusson, MK, Palmason, R, Haraldsdottir, V, Andersen, K, Onundarson, PT, Thorgeirsson, G, Kiemeney, LA, Powell, JT, Carey, DJ, Kuivaniemi, H, Lindholt, JS, Jones, GT, Kong, A, Blankensteijn, JD, Matthiasson, SE, Thorsteinsdottir, U, Stefansson, K

المصدر: Nature genetics. 42(8):692-U71

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:121097195Test

المؤلفون: Malerba, G, Lindgren, CM, Xumerle, L, Kiviluoma, P, Trabetti, E, Laitinen, T, Galavotti, R, Pescollderungg, L, Boner, AL, Kere, J, Pignatti, PF

المصدر: Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology. 37(1):83-89

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:12133351Test

المؤلفون: Renieri, A, Bruttini, M, Galli, L, Zanelli, P, Neri, T, Rossetti, S, Turco, A, Heiskari, N, Zhou, J, Gusmano, R, Massella, L, Banfi, G, Scolari, F, Sessa, A, Rizzoni, G, Tryggvason, K, Pignatti, PF, Savi, M, Ballabio, A, DeMarchi, M

المصدر: American journal of human genetics. 58(6):1192-1204

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:113809273Test

المؤلفون: CIMINELLI, BIANCA MARIA, MODIANO, GUIDO, Bonizzato, A., Bombieri, C., Pompei, F., Gabaldo, M., Ciccacci, C., Begnini, A., Holubova, A., Zorzi, P., Piskackova, T., Macek, JrM, Castellani, C., Pignatti, PF

المساهمون: Ciminelli, Bm, Bonizzato, A, Bombieri, C, Pompei, F, Gabaldo, M, Ciccacci, C, Begnini, A, Holubova, A, Zorzi, P, Piskackova, T, Macek, J, Castellani, C, Modiano, G, Pignatti, P

مصطلحات موضوعية: CF risk, CFTR, Haplotype, M470V polymorphism, Settore BIO/18 - GENETICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16784904; info:eu-repo/semantics/altIdentifier/wos/WOS:000244136300002; volume:6; issue:1; firstpage:15; lastpage:22; journal:JOURNAL OF CYSTIC FIBROSIS; http://hdl.handle.net/2108/34895Test; info:eu-repo/semantics/altIdentifier/scopus/http://www.scopus.com/inward/record.url?eid=2-s2.0-33845936146&partnerID=40&md5=f2669975ff447ad2c250f142e51df1f7Test

الإتاحة: https://doi.org/10.1016/j.jcf.2006.04.003Test
http://hdl.handle.net/2108/34895Test

المؤلفون: Modiano, G, Pignatti, PF, CIMINELLI, BIANCA MARIA

المساهمون: Modiano, G, Ciminelli, Bm, Pignatti, P

مصطلحات موضوعية: lactase, lactose tolerance, Cystic Fibrosi, selection, balanced polymorphism, Settore BIO/18 - GENETICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/17180122; info:eu-repo/semantics/altIdentifier/wos/WOS:000244406200001; volume:15; issue:3; firstpage:255; lastpage:259; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2108/29185Test; info:eu-repo/semantics/altIdentifier/scopus/http://www.scopus.com/inward/record.url?eid=2-s2.0-33847216233&partnerID=40&md5=32c28a032cba0aaf418943bfee7e6429Test

الإتاحة: https://doi.org/10.1038/sj.ejhg.5201749Test
http://hdl.handle.net/2108/29185Test

المؤلفون: Muglia, Pierandrea, Filosi, Michele, Da Ros, Lucio, Kam-Thong, Tony, Nardocci, Franco, Trabetti, Elisabetta, Ratti, Emiliangelo, Rizzini, Paolo, Zuddas, Alessandro, Bernardina, Bernardo Dalla, Domenici, Enrico, Alibrio G, Anchisi L, Andruccioli M, Benvenuto A, Battistella PA, Boscaini F, Bravaccio C, Ceppi E, Cosentino D, Curatolo P, Da Ros L, Bernardina BD, De Giacomo A, Di Vita G, Domenici E, Elia M, Gitti F, Grittani S, Lamanna AL, Mani E, Manzi B, Margari L, Masi G, Molteni M, Muglia P, Nardocci F, Pascotto A, Parmeggiani A, Pignatti PF, Piroddi T, Prandini P, Ratti E, Rizzini P, Russo S, Scifo R, Tancredi R, Tiberti A, Trabetti E, Zoccante L, Zuddas A.

المساهمون: Muglia, Pierandrea, Filosi, Michele, Da Ros, Lucio, Kam-Thong, Tony, Nardocci, Franco, Trabetti, Elisabetta, Ratti, Emiliangelo, Rizzini, Paolo, Zuddas, Alessandro, Bernardina, Bernardo Dalla, Domenici, Enrico, Alibrio, G, Anchisi, L, Andruccioli, M, Benvenuto, A, Battistella, Pa, Boscaini, F, Bravaccio, C, Ceppi, E, Cosentino, D, Curatolo, P, Da Ros, L, Bernardina, Bd, De Giacomo, A, Di Vita, G, Domenici, E, Elia, M, Gitti, F, Grittani, S, Lamanna, Al, Mani, E, Manzi, B, Margari, L, Masi, G, Molteni, M, Muglia, P, Nardocci, F, Pascotto, A, Parmeggiani, A, Pignatti, Pf, Piroddi, T, Prandini, P, Ratti, E, Rizzini, P, Russo, S, Scifo, R, Tancredi, R, Tiberti, A, Trabetti, E, Zoccante, L, Zuddas, A.

مصطلحات موضوعية: Autism Spectrum disorder, Biomarker, Biorepository, Genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30463616; info:eu-repo/semantics/altIdentifier/wos/WOS:000450890200001; volume:18; issue:1; firstpage:369; journal:BMC PSYCHIATRY; http://hdl.handle.net/11586/230388Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85056923026

الإتاحة: https://doi.org/10.1186/s12888-018-1937-yTest
http://hdl.handle.net/11586/230388Test

المؤلفون: Pompei, F, Bombieri, C, Ciccacci, C, Koudova, M, Giorgi, S, Belpinati, F, Begnini, A, Cerny, M, Des_Georges, M, Claustres, M, Ferec, C, Macek_Jr, M, Pignatti, PF, CIMINELLI, BIANCA MARIA, MODIANO, GUIDO

المساهمون: Pompei, F, Ciminelli, Bm, Bombieri, C, Ciccacci, C, Koudova, M, Giorgi, S, Belpinati, F, Begnini, A, Cerny, M, Des_georges, M, Claustres, M, Ferec, C, Macek_jr, M, Modiano, G, Pignatti, P

مصطلحات موضوعية: CFTR, random variability, allele-restricted haplotype variability, Settore BIO/18 - GENETICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16251901; info:eu-repo/semantics/altIdentifier/wos/WOS:000234103200016; volume:14; issue:1; firstpage:85; lastpage:93; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2108/37013Test; info:eu-repo/semantics/altIdentifier/scopus/http://www.scopus.com/inward/record.url?eid=2-s2.0-29644447987&partnerID=40&md5=9ef6001c8dad09ccb5b0dcddc3b89bc7Test

الإتاحة: https://doi.org/10.1038/sj.ejhg.5201498Test
http://hdl.handle.net/2108/37013Test

المؤلفون: Bombieri, C, Giorgi, S, Carles, S, De Cid, R, Belpinati, F, Tandoi, C, Pallares Ruiz, N, Lazaro, C, Romey, MC, Casals, T, Pompei, F, Gandini, G, Claustres, M, Estivill, X, Pignatti, PF, CIMINELLI, BIANCA MARIA, MODIANO, GUIDO

المساهمون: Bombieri, C, Giorgi, S, Carles, S, De Cid, R, Belpinati, F, Tandoi, C, Pallares Ruiz, N, Lazaro, C, Ciminelli, Bm, Romey, M, Casals, T, Pompei, F, Gandini, G, Claustres, M, Estivill, X, Pignatti, P, Modiano, G

مصطلحات موضوعية: transmembrane conductance regulator, cystic fibrosi, denaturing gradient gel electrophoresi, CFTR, Settore BIO/18 - GENETICA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000086163300003; volume:106; issue:2; firstpage:172; lastpage:178; journal:HUMAN GENETICS; http://hdl.handle.net/2108/43117Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0034016792

الإتاحة: https://doi.org/10.1007/s004390051025Test
http://hdl.handle.net/2108/43117Test