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1دورية أكاديمية
المؤلفون: Migliore C., Vendramin A., McKee S., Prontera P., Faravelli F., Sachdev R., Dias P., Mascaro M., Licastro D., Meroni G.
المساهمون: Migliore, C., Vendramin, A., Mckee, S., Prontera, P., Faravelli, F., Sachdev, R., Dias, P., Mascaro, M., Licastro, D., Meroni, G.
مصطلحات موضوعية: Hypospadia, MID1 gene, Opitz G/BBB Syndrome, SPECC1L gene
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000975403800003; volume:13; issue:2; firstpage:"-"; lastpage:"-"; numberofpages:10; journal:GENES; http://hdl.handle.net/11368/3009255Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85124071775; https://www.mdpi.com/2073-4425/13/2/252Test
الإتاحة: https://doi.org/10.3390/genes13020252Test
http://hdl.handle.net/11368/3009255Test
https://www.mdpi.com/2073-4425/13/2/252Test -
2دورية أكاديمية
المؤلفون: Bockenhauer, D, Mushtaq, I, Faravelli, F
المصدر: Kidney International , 101 (4) p. 833. (2022)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10145417/2/aam.jpgTest; https://discovery.ucl.ac.uk/id/eprint/10145417/3/Bockenhauer_clinical%20imageKIrev.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10145417Test/
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3دورية أكاديمية
المؤلفون: McGlacken-Byrne, SM, Abdelmaksoud, A, Haini, M, Palm, L, Ashworth, M, Li, J, Wang, W, Wang, X, Wang, J, Callaghan, B, Kinsler, VA, Faravelli, F, Dattani, MT
المصدر: European Journal of Endocrinology , 187 (6) K55-K61. (2022)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Endocrinology & Metabolism, PROTEIN-KINASE-A, CATALYTIC SUBUNIT, REGULATORY SUBUNIT, SOMATIC MUTATIONS, VARIANTS, GERMLINE, ACTIVATION, MECHANISMS, PATHWAY, DISEASE
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10173540/1/Kinsler_Final_PRKACA_EJE_Clean_210922.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10173540Test/
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4دورية أكاديمية
المؤلفون: Vabres, P, Sorlin, A, Kholmanskikh, SS, Demeer, B, St-Onge, J, Duffourd, Y, Kuentz, P, Courcet, J-B, Carmignac, V, Garret, P, Bessis, D, Boute, O, Bron, A, Captier, G, Carmi, E, Devauchelle, B, Genevieve, D, Gondry-Jouet, C, Guibaud, L, Lafon, A, Mathieu-Dramard, M, Thevenon, J, Dobyns, WB, Bernard, G, Polubothu, S, Faravelli, F, Kinsler, VA, Thauvin, C, Faivre, L, Ross, ME, Riviere, J-B
المصدر: Nature Genetics , 51 pp. 1438-1441. (2019)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10109767/1/47356_2_merged_1565850611.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10109767Test/
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5دورية أكاديمية
المؤلفون: Ivanovski, I. (Ivan), Djuric, O. (Olivera), Caraffi, S.G. (Stefano Giuseppe), Santodirocco, D. (Daniela), Pollazzon, M. (Marzia), Rosato, S. (Simonetta), Cordelli, D.M. (Duccio M.), Abdalla, E. (Ebtesam), Accorsi, P. (Patrizia), Adam, M.P. (Margaret), Ajmone, P.F. (Paola Francesca), Badura-Stronka, M. (Magdalena), Baldo, C. (Chiara), Baldi, M. (Maddalena), Bayat, A. (Allan), Bigoni, S. (Stefania), Bonvicini, F. (Federico), Breckpot, J. (Jeroen), Callewaert, L., Cocchi, G. (Guido), Cuturilo, G. (Goran), De Brasi, D. (Daniele), Devriendt, K. (Koenraad), Dinulos, M.B. (Mary Beth), Hjortshøj, T.D. (Tina Duelund), Epifanio, R. (Roberta), Faravelli, F. (Francesca), Fiumara, A. (Agata), Formisano, D. (Debora), Giordano, L. (Lucio), Grasso, M. (Marina), Grønborg, S. (Sabine), Iodice, A. (Alessandro), Iughetti, L. (Lorenzo), Kuburovic, V. (Vladimir), Kutkowska-Kazmierczak, A. (Anna), Lacombe, D. (Didier), Lo Rizzo, C. (Caterina), Luchetti, A. (Anna), Malbora, B. (Baris), Mammi, I. (Isabella), Mari, F. (Francesca), Montorsi, G. (Giulia), Moutton, S. (Sebastien), Møller, R.S. (Rikke), Muschke, P. (Petra), Nielsen, J.E.K. (Jens Erik Klint), Obersztyn, E. (Ewa), Pantaleoni, C. (Chiara), Pellicciari, A. (Alessandro), Pisanti, M.A. (Maria Antonietta), Prpic, I. (Igor), Poch-Olive, M.L. (Maria Luisa), Raviglione, F. (Federico), Renieri, A. (Alessandra), Ricci, E. (Emilia), Rivieri, F. (Francesca), Santen, G.W.E. (Gijs), Savasta, S. (Salvatore), Scarano, G. (Gioacchino), Schanze, I. (Ina), Selicorni, A. (Angelo), Silengo, M.C., Smigiel, R. (Robert), Spaccini, L. (Luigina), Sorge, G. (Giovanni), Szczaluba, K. (Krzysztof), Tarani, L. (Luigi), Tone, L.G. (Luis Gonzaga), Toutain, A. (Annick), Trimouille, A. (Aurelien), Valera, E.T. (Elvis Terci), Vergano, S.S. (Samantha Schrier), Zanotta, N. (Nicoletta), Zenker, M. (Martin), Conidi, A. (Andrea), Zollino, M., Rauch, A., Zweier, C. (Christiane), Garavelli, L. (Livia)
المصدر: Genetics in Medicine vol. 20 no. 9, pp. 965-975
مصطلحات موضوعية: Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/114496Test; urn:hdl:1765/114496
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6دورية أكاديمية
المؤلفون: Fernández, E., Gennaro, E., Pirozzi, F., Baldo, C., Forzano, F., Turolla, L., Faravelli, F., Gastaldo, D., Coviello, D., Grasso, M., Bagni, C.
المصدر: Frontiers in Genetics, vol. 9, pp. 442
مصطلحات موضوعية: CGG expansion, FMR1 mRNA, FMRP, fragile X syndrome, mosaicism
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30450110; info:eu-repo/semantics/altIdentifier/pissn/1664-8021; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_CA961EE72B816; https://serval.unil.ch/notice/serval:BIB_CA961EE72B81Test; urn:issn:1664-8021; https://serval.unil.ch/resource/serval:BIB_CA961EE72B81.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CA961EE72B816Test
الإتاحة: https://doi.org/10.3389/fgene.2018.00442Test
https://serval.unil.ch/notice/serval:BIB_CA961EE72B81Test
https://serval.unil.ch/resource/serval:BIB_CA961EE72B81.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CA961EE72B816Test -
7دورية أكاديمية
المؤلفون: Chandler, N, Best, S, Hayward, J, Faravelli, F, Mansour, S, Kivuva, E, Tapon, D, Male, A, DeVile, C, Chitty, LS
المصدر: Genetics in Medicine , 20 pp. 1430-1437. (2018)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10053276/7/Chitty_gim201830.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10053276Test/
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8دورية أكاديمية
المؤلفون: Vabres, P., Sorlin, A., Kholmanskikh, S., Duffourd, Y., Kuentz, P., Carmignac, V., Bessis, D., Dobyns, W., Polubothu, S., Faravelli, F., Kinsler, V., Faivre, L., Ross, M., Rivière, J.
المصدر: Journal of Investigative Dermatology ; volume 138, issue 5, page S135 ; ISSN 0022-202X
مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry
الإتاحة: https://doi.org/10.1016/j.jid.2018.03.804Test
https://api.elsevier.com/content/article/PII:S0022202X18310303?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022202X18310303?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Grozeva D, Carss K, Spasic Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S, Italian X. linked Mental Retardation Project, UK10K Consortium, GOLD Consortium, Hurles M, Raymond F.L. Strangoni G, D' Avanzo G, Carnevale F, RESTA, Nicoletta, Scarano G, Mazzanti L, Borgatti R, Parini B, Marchina E, Strisciuglio P, Cavalli P, Bigoni S, Zammarchi E, Faravelli F, Di Rocco M, Lerone M, Gaslini G, D'Alessandro E, Selicorni A, Pantaleoni C, Bedeschi F, Rinaldi MM, Tenconi R, Verri A, Battaglia A, Guerrini R, Priolo M, Garavelli L, Neri G, Pergola M, Galasso C, Zelante L, Ferrero G, Memo L, Turolla L, Hladnik U, Romano C, Durbin R, Barrett J, Barroso I, Davey Smith G, Farooqi IS, O' Rahilly S, Palotie A, Soranzo N, Spector T, Zeggini E, Beales P, Blackwood D, Bolton P, Breen G, Chatterjee K, Collier D, Fitzpatrick D, Gallagher L, Geschwind D, Gurling H, Humphries S, McGuffin P, Monaco A, Muntoni F, Owen M, Raymond L, Savage D, Scambler P, Semple R, Skuse D, St Clair D, Timpson N, Van der Aa N, Ahmed A, Ajith VK, Archer H, Armstrong R, Balasubramanian M, Baralle D, Barnicoat A, Bennett C, Bernhard B, Bianciardi L, Bitner Glindzicz M, Blair E, van Bokhoven H, van Bon B, Bradley L, Brady A, Brewer C, Brunner H, Burke M, Caliebe A, Canham N, Castle B, Chandler K, Clarke A, Clayton Smith J, Clowes V, Cole T, Collins A, Cook J, Coughlin C, Cowe A, Cox H, Crow Y, Dabir T, Davies S, Deshpande D, Diderich KE, Dolling C, Donnai D, Donnelly D, Dooijes D, Dupont J, Ellis I, Van Esch H, De Filippis R, Firth H, Fisher R, Foulds N, Franco B, Fry A, Fryer A, Fuchs G, Garcia S, Gardiner C, Gibbons R, Goodship J, Green A, Greenhalgh L, Guanti G, Guilbert P, Halest MV, Haroon M, Harvey J, Henderson A, Hennekam R, Holden S, Holder S, Homfray T, Hurst J, Ionnides A, Jarvis J, Johnson DS, Jones E, Jones L, Jongmans M, Josifova D, Joss S, Kenny J, Kerr B, Kingston H, Kini U, Kivuva E, Kooy F, Kraus A, Kurian M, Lachlan K, Lam W, Lees M, Lindsay S, Longman C, Lynch S, Magee A, Van Maldergem L, Male A, Mari F, McConnell V, McGeb A, McKee S, McKeown C, McWilliam C, Medeira A, Mehta S, Metcalfe K, Mohammed S, Morton J, Murday V, Newbury Ecob R, Nik Zainal' S, Norman A, Park SM, Parker MJ, Prescott K, Price S, Procter A, Quarrell O, Rankin J, Rea G, Reardon W, Robert L, Rosser E, Sandford R, Scott R, Scurr I, Senger G, Sharif S, Shaw A, Shaw C, Shears D, Smithson S, Splitt M, Stewart A, Stewart F, Stewart H, Suri M, Sweeney E, Taffinder S, Tanteles G, Temple K, Thompson J, Tocher J, Tomkins S, Turner C, Turnpenny P, Vanderstein A, Vasudevan P, Villard L, Visser L, Wakeling E, Weber A, Williams D, Wilson L, Woods G, Wright M, Writzl K, Yates L.
المساهمون: Grozeva, D, Carss, K, Spasic Boskovic, O, Tejada, Mi, Gecz, J, Shaw, M, Corbett, M, Haan, E, Thompson, E, Friend, K, Hussain, Z, Hackett, A, Field, M, Renieri, A, Stevenson, R, Schwartz, C, Floyd, Ja, Bentham, J, Cosgrove, C, Keavney, B, Bhattacharya, S, Italian X., linked Mental Retardation Project, Uk10k, Consortium, Gold, Consortium, Hurles, M, Strangoni G, Raymond F. L., D' Avanzo, G, Carnevale, F, Resta, Nicoletta, Scarano, G, Mazzanti, L, Borgatti, R, Parini, B, Marchina, E, Strisciuglio, P, Cavalli, P, Bigoni, S, Zammarchi, E, Faravelli, F, Di Rocco, M, Lerone, M, Gaslini, G, D'Alessandro, E, Selicorni, A, Pantaleoni, C, Bedeschi, F, Rinaldi, Mm, Tenconi, R, Verri, A, Battaglia, A, Guerrini, R, Priolo, M, Garavelli, L, Neri, G, Pergola, M, Galasso, C, Zelante, L, Ferrero, G, Memo, L, Turolla, L, Hladnik, U, Romano, C, Durbin, R, Barrett, J, Barroso, I, Davey Smith, G, Farooqi, I, O' Rahilly, S, Palotie, A, Soranzo, N, Spector, T, Zeggini, E, Beales, P, Blackwood, D, Bolton, P, Breen, G, Chatterjee, K, Collier, D, Fitzpatrick, D, Gallagher, L, Geschwind, D, Gurling, H, Humphries, S, Mcguffin, P, Monaco, A, Muntoni, F, Owen, M, Raymond, L, Savage, D, Scambler, P, Semple, R, Skuse, D, St Clair, D, Timpson, N, Van der Aa, N, Ahmed, A
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26350204; info:eu-repo/semantics/altIdentifier/wos/WOS:000364788500012; volume:36; issue:12; firstpage:1197; lastpage:1204; numberofpages:8; journal:HUMAN MUTATION; http://hdl.handle.net/11586/178176Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84947019265
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10دورية أكاديمية
المؤلفون: Ricci E., Fetta A., Garavelli L., Caraffi S., Ivanovski I., Bonanni P., Accorsi P., Giordano L., Pantaleoni C., Romeo A., Arena A., Bonetti S., Boni A., Chiarello D., Di Pisa V., Epifanio R., Faravelli F., Finardi E., Fiumara A., Grioni D., Mammi I., Negrin S., Osanni E., Raviglione F., Rivieri F., Rizzi R., Savasta S., Tarani L., Zanotta N., Dormi A., Vignoli A., Canevini M., Cordelli D. M.
المساهمون: Ricci E., Fetta A., Garavelli L., Caraffi S., Ivanovski I., Bonanni P., Accorsi P., Giordano L., Pantaleoni C., Romeo A., Arena A., Bonetti S., Boni A., Chiarello D., Di Pisa V., Epifanio R., Faravelli F., Finardi E., Fiumara A., Grioni D., Mammi I., Negrin S., Osanni E., Raviglione F., Rivieri F., Rizzi R., Savasta S., Tarani L., Zanotta N., Dormi A., Vignoli A., Canevini M., Cordelli D.M.
مصطلحات موضوعية: Age dependent pattern, Genetic epilepsy, MWS, ZEB2
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34619538; info:eu-repo/semantics/altIdentifier/wos/WOS:000708572300004; volume:124; firstpage:108315; lastpage:108315; numberofpages:10; journal:EPILEPSY & BEHAVIOR; http://hdl.handle.net/11585/857157Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118690797
النص الكامل 