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1دورية أكاديمية
المؤلفون: Melis, D.A.M. (Danielle), Carvalho, D. (Daniel), Barbaro-Dieber, T. (Tina), Espay, A.J. (Alberto J.), Gambello, M.J. (Michael J.), Gener, B. (Blanca), Gerkes, E.H. (Erica H), Hitzert, M.M. (Marrit M.), Hove, H.B. (Hanne B.), Jansen, S. (Sandra), Jira, P.E. (Petr), Lachlan, K. (Katherine), Menke, L.A. (Leonie), Narayanan, V. (Vinodh), Ortiz, D. (Damara), Overwater, E. (Eline), Posmyk, R. (Renata), Ramsey, K. (Keri), Rossi, A. (Alessandro), Sandoval, R.L. (Renata Lazari), Stumpel, C. (Connie), Stuurman, K.E. (Kyra), Cordeddu, V. (Viviana), Turnpenny, P. (Peter), Strisciuglio, P. (Pietro), Tartaglia, M. (Marco), Unger, S. (Sheela), Waters, T. (Todd), Turnbull, C. (Clare), Hennekam, R.C.M. (Raoul)
المصدر: Clinical Genetics: an international journal of genetics and molecular medicine
مصطلحات موضوعية: alpha-fetoprotein, ectopic calcifications, overgrowth, Primrose syndrome, ZBTB20
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/126470Test; urn:hdl:1765/126470
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2دورية أكاديمية
المؤلفون: Martinelli, S, Cordeddu, V, Galosi, S, Lanzo, A, Palma, E, Pannone, L, Ciolfi, A, Di Nottia, M, Rizza, T, Bocchinfuso, G, Traversa, A, Caputo, V, Farrotti, A, Carducci, C, Bernardini, L, Cogo, S, Paglione, M, Venditti, M, Bentivoglio, A, Ng, J, Kurian, MA, Civiero, L, Greggio, E, Stella, L, Trettel, F, Sciaccaluga, M, Roseti, C, Carrozzo, R, Fucile, S, Limatola, C, Di Schiavi, E, Tartaglia, M, Leuzzi, V
المصدر: Parkinsonism & Related Disorders , 72 pp. 75-79. (2020)
مصطلحات موضوعية: Aminoacyl-tRNA synthetase, CHRNA6, Infantile parkinsonism, Nicotinic acetylcholine receptor, WARS2
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10095066/3/Kurian_CHRNA6.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10095066Test/
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3دورية أكاديمية
المؤلفون: Cordeddu, V, Yin, Jc, Gunnarsson, C, Virtanen, C, Drunat, S, Lepri, F, De Luca, A, Rossi, C, Ciolfi, A, Pugh, Tj, Bruselles, A, Priest, Jr, Pennacchio, La, Lu, Z, Danesh, A, Quevedo, R, Hamid, A, Martinelli, S, Pantaleoni, F, Gnazzo, M, Daniele, P, Lissewski, C, BOCCHINFUSO, GIANFRANCO, STELLA, LORENZO, Odent, S, Philip, N, Faivre, L, Vlckova, M, Seemanova, E, Digilio, C, Zenker, M, Zampino, G, Verloes, A, Dallapiccola, B, Roberts, Ae, Cave, H, Gelb, Bd, Neel, Bg, Tartaglia, M.
المساهمون: Cordeddu, V, Yin, J, Gunnarsson, C, Virtanen, C, Drunat, S, Lepri, F, De Luca, A, Rossi, C, Ciolfi, A, Pugh, T, Bruselles, A, Priest, J, Pennacchio, L, Lu, Z, Danesh, A, Quevedo, R, Hamid, A, Martinelli, S, Pantaleoni, F, Gnazzo, M, Daniele, P, Lissewski, C, Bocchinfuso, G, Stella, L, Odent, S, Philip, N, Faivre, L, Vlckova, M, Seemanova, E, Digilio, C, Zenker, M, Zampino, G, Verloes, A, Dallapiccola, B, Roberts, A, Cave, H, Gelb, B, Neel, B, Tartaglia, M
مصطلحات موضوعية: Noonan syndrome, RAS signaling, SOS2, genotype-phenotype correlations, Settore CHIM/02 - CHIMICA FISICA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26173643; info:eu-repo/semantics/altIdentifier/wos/WOS:000362991400011; firstpage:n/a; lastpage:n/a; journal:HUMAN MUTATION; http://hdl.handle.net/2108/118204Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84944179450
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4دورية أكاديمية
المؤلفون: Gargano G, Guidotti I, Vagnarelli F, Rosato S, Comitini G, Wischmeijer A, Cordeddu V, Rossi C, Tartaglia M, Garavelli L., BALESTRI, ELEONORA, LA SALA, Giovanni Battista, IUGHETTI, Lorenzo
المساهمون: Gargano, G, Guidotti, I, Balestri, Eleonora, Vagnarelli, F, Rosato, S, Comitini, G, Wischmeijer, A, LA SALA, Giovanni Battista, Iughetti, Lorenzo, Cordeddu, V, Rossi, C, Tartaglia, M, Garavelli, L.
مصطلحات موضوعية: Hydrop, fetal DNA, Noonan syndrome
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24458587; info:eu-repo/semantics/altIdentifier/wos/WOS:000333193800045; volume:164; issue:4; firstpage:1015; lastpage:1020; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11380/1007919Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84896317681
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5دورية أكاديمية
المؤلفون: Cordeddu V., Macke E. L., Radio F. C., Lo Cicero S., Pantaleoni F., Tatti M., Bellacchio E., Ciolfi A., Agolini E., Bruselles A., Brunetti-Pierri N., Suri M., Josephs K. S., McEntagart M., Lanpher B., Nickels K. C., Haworth A., Reed L., Cappuccio G., Mammi I., Tarnowski J. M., Novelli A., Melis D., Callewaert B., Dallapiccola B., Klee E., Tartaglia M.
المساهمون: Cordeddu, V., Macke, E. L., Radio, F. C., Lo Cicero, S., Pantaleoni, F., Tatti, M., Bellacchio, E., Ciolfi, A., Agolini, E., Bruselles, A., Brunetti-Pierri, N., Suri, M., Josephs, K. S., Mcentagart, M., Lanpher, B., Nickels, K. C., Haworth, A., Reed, L., Cappuccio, G., Mammi, I., Tarnowski, J. M., Novelli, A., Melis, D., Callewaert, B., Dallapiccola, B., Klee, E., Tartaglia, M.
مصطلحات موضوعية: clinical variation, genotype-phenotype correlation, intellectual disability Nascimento type, mutation spectrum, UBE2A
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32415735; info:eu-repo/semantics/altIdentifier/wos/WOS:000537281100001; firstpage:1; lastpage:7; numberofpages:7; journal:CLINICAL GENETICS; http://hdl.handle.net/11386/4803798Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85085871295
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6دورية أكاديمية
المؤلفون: Martinelli S., Cordeddu V., Galosi S., Lanzo A., Palma E., Pannone L., Ciolfi A., Di Nottia M., Rizza T., Bocchinfuso G., Traversa A., Caputo V., Farrotti A., Carducci C., Bernardini L., Cogo S., Paglione M., Venditti M., Bentivoglio A., Ng J., Kurian M. A., Civiero L., Greggio E., Stella L., Trettel F., Sciaccaluga M., Roseti C., Carrozzo R., Fucile S., Limatola C., Di Schiavi E., Tartaglia M., Leuzzi V.
المساهمون: Martinelli, S, Cordeddu, V, Galosi, S, Lanzo, A, Palma, E, Pannone, L, Ciolfi, A, Di Nottia, M, Rizza, T, Bocchinfuso, G, Traversa, A, Caputo, V, Farrotti, A, Carducci, C, Bernardini, L, Cogo, S, Paglione, M, Venditti, M, Bentivoglio, A, Ng, J, Kurian, Ma, Civiero, L, Greggio, E, Stella, L, Trettel, F, Sciaccaluga, M, Roseti, C, Carrozzo, R, Fucile, S, Limatola, C, Di Schiavi, E, Tartaglia, M, Leuzzi, V
مصطلحات موضوعية: Aminoacyl-tRNA synthetase, CHRNA6, Infantile parkinsonism, Nicotinic acetylcholine receptor, WARS2, Settore CHIM/02 - CHIMICA FISICA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32120303; info:eu-repo/semantics/altIdentifier/wos/WOS:000527333100013; volume:72; firstpage:75; lastpage:79; numberofpages:5; journal:PARKINSONISM & RELATED DISORDERS; http://hdl.handle.net/2108/245419Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85080039205
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7دورية أكاديمية
المؤلفون: Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M., FERRERO, Giovanni Battista
المساهمون: Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M.
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19684605; info:eu-repo/semantics/altIdentifier/wos/WOS:000269382100016; volume:41; issue:9; firstpage:1022; lastpage:1026; numberofpages:5; journal:NATURE GENETICS; http://hdl.handle.net/2318/62970Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-69349105766; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765465Test/
الإتاحة: https://doi.org/10.1038/ng.425Test
http://hdl.handle.net/2318/62970Test
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765465Test/ -
8دورية أكاديمية
المؤلفون: Garavelli L, Cordeddu V, Errico S, Bertolini P, Street ME, Rosato S, Pollazzon M, Wischmeijer A, Ivanovski I, Daniele P, Bacchini E, Lombardi AA, Izzi G, Biasucci G, Del Rossi C, Corradi D, Cazzaniga G, DOMINICI, Carlo, Rossi C, De Luca A, Bernasconi S, Riccardi R, Legius E, Tartaglia M.
المساهمون: Garavelli, L, Cordeddu, V, Errico, S, Bertolini, P, Street, Me, Rosato, S, Pollazzon, M, Wischmeijer, A, Ivanovski, I, Daniele, P, Bacchini, E, Lombardi, Aa, Izzi, G, Biasucci, G, Del Rossi, C, Corradi, D, Cazzaniga, G, Dominici, Carlo, Rossi, C, De Luca, A, Bernasconi, S, Riccardi, R, Legius, E, Tartaglia, M.
مصطلحات موضوعية: RASopathie, SHOC2, acute leukemia, brain tumor, cancer predisposition, mazzanti syndrome, neuroblastoma, noonan-like syndrome with loose anagen hair, rhabdomyosarcoma
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25846317; info:eu-repo/semantics/altIdentifier/wos/WOS:000358597400156; volume:167; issue:8; firstpage:1902; lastpage:1907; numberofpages:6; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11573/781744Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84937971557
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9مؤتمر
المؤلفون: Frezza D, Martinez Labarga C, Serone E, Iacoacci V, Olivieri A, Cordeddu V, Russo A, D'Amico C, Carpi F, Napolioni V, Poma A, Giambra V, Rickards O., ACHILLI, Alessandro, BABUDRI, Nora
المساهمون: Frezza, D, Martinez Labarga, C, Serone, E, Iacoacci, V, Olivieri, A, Achilli, Alessandro, Cordeddu, V, Russo, A, D'Amico, C, Carpi, F, Napolioni, V, Babudri, Nora, Poma, A, Giambra, V, Rickards, O.
العلاقة: ispartofbook:XIIth FISV Annual Meeting; http://hdl.handle.net/11391/1015271Test
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10مؤتمر
المؤلفون: Frezza D, Martinez Labarga C, Serone E, Iacoacci V, ACHILLI, ALESSANDRO, Cordeddu V, Russo A, D'Amico C, Carpi F, Napolioni V, Babudri N, Poma A, Giambra V, Rickards O., OLIVIERI, ANNA
المساهمون: Frezza, D, Martinez Labarga, C, Serone, E, Iacoacci, V, Olivieri, Anna, Achilli, Alessandro, Cordeddu, V, Russo, A, D'Amico, C, Carpi, F, Napolioni, V, Babudri, N, Poma, A, Giambra, V, Rickards, O.
العلاقة: ispartofbook:Proceedings of the 12th FISV Annual Meeting; 12th FISV Annual Meeting; http://hdl.handle.net/11571/575882Test
