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1دورية أكاديمية
المؤلفون: Keller, R, Chrastina, P, Pavlikova, M, Gouveia, S, Ribes, A, Kolker, S, Blom, HJ, Baumgartner, MR, Bartl, J, Dionisi-Vici, C, Gleich, F, Morris, AA, Kozich, V, Huemer, M, Baric, I, Ben-Omran, T, Blasco-Alonso, J, Delgado, MA, Carducci, C, Cassanello, M, Cerone, R, Couce, ML, Crushell, E, Pecellin, CD, Dulin, E, Espada, M, Ferino, G, Fingerhut, R, Jimenez, IG, Gallego, IG, Gonzalez-Irazabal, Y, Gramer, G, Fita, MJJ, Karg, E, Klein, J, Konstantopoulou, V, la Marca, G, Teles, EL, Leuzzi, V, Lilliu, F, Lopez, RM, Lund, AM, Mayne, P, Meavilla, S, Moat, SJ, Okun, JG, Pasquini, E, Pedron-Giner, CC, Racz, GZ, Gomez, MAR, Vilarinho, L, Yahyaoui, R, Tansek, MZ, Zetterstrom, RH, Zeyda, M
المصدر: Journal of inherited metabolic disease. 42(1):128-139
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Baronio F., Conti F., Miniaci A., Carfagnini F., Di Natale V., Di Donato G., Testi M., Totaro C., De Fanti A., Boenzi S., Dionisi-Vici C., Esposito S., Pession A.
المساهمون: Baronio F., Conti F., Miniaci A., Carfagnini F., Di Natale V., Di Donato G., Testi M., Totaro C., De Fanti A., Boenzi S., Dionisi-Vici C., Esposito S., Pession A.
مصطلحات موضوعية: Adrenal calcification, Hemophagocytic lymphohistiocytosi, Lysosomal acid lipase, Oxysterol, Sebelipase alpha, Wolman disease
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35242567; info:eu-repo/semantics/altIdentifier/wos/WOS:000819959100001; volume:30; firstpage:1; lastpage:5; numberofpages:5; journal:MOLECULAR GENETICS AND METABOLISM REPORTS; https://hdl.handle.net/11585/950746Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121335131; https://www-sciencedirect-com.ezproxy.unibo.it/science/article/pii/S2214426921001282?via=ihubTest
الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100833Test
https://hdl.handle.net/11585/950746Test
https://www-sciencedirect-com.ezproxy.unibo.it/science/article/pii/S2214426921001282?via=ihubTest -
3دورية أكاديمية
المؤلفون: Mütze, U., Gleich, F., Garbade, S.F., Plisson, C., Aldámiz-Echevarría, L., Arrieta, F., Ballhausen, D., Zielonka, M., Petković Ramadža, D., Baumgartner, M.R., Cano, A., García Jiménez, M.C., Dionisi-Vici, C., Ješina, P., Blom, H.J., Couce, M.L., Meavilla Olivas, S., Mention, K., Mochel, F., Morris, AAM, Mundy, H., Redonnet-Vernhet, I., Santra, S., Schiff, M., Servais, A., Vitoria, I., Huemer, M., Kožich, V., Kölker, S.
المصدر: Journal of inherited metabolic disease, vol. 45, no. 4, pp. 719-733
مصطلحات موضوعية: Betaine/adverse effects, Cystathionine beta-Synthase, Homocysteine, Homocystinuria/drug therapy, Humans, Methylenetetrahydrofolate Reductase (NADPH2)/deficiency, Methylenetetrahydrofolate Reductase (NADPH2)/genetics, Muscle Spasticity, Psychotic Disorders, E-HOD, betaine anhydrous, homocystinuria, orphan drug, postauthorization safety study, public private partnership, rare disease
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35358327; info:eu-repo/semantics/altIdentifier/eissn/1573-2665; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5D5BE243D67D6; https://serval.unil.ch/notice/serval:BIB_5D5BE243D67DTest; urn:issn:0141-8955; https://serval.unil.ch/resource/serval:BIB_5D5BE243D67D.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5D5BE243D67D6Test
الإتاحة: https://doi.org/10.1002/jimd.12499Test
https://serval.unil.ch/notice/serval:BIB_5D5BE243D67DTest
https://serval.unil.ch/resource/serval:BIB_5D5BE243D67D.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5D5BE243D67D6Test -
4دورية أكاديمية
المؤلفون: Kaiyrzhanov, R., Mohammed, S.E.M., Maroofian, R., Husain, R.A., Catania, A., Torraco, A., Alahmad, A., Dutra-Clarke, M., Grønborg, S., Sudarsanam, A., Vogt, J., Arrigoni, F., Baptista, J., Haider, S., Feichtinger, R.G., Bernardi, P., Zulian, A., Gusic, M., Efthymiou, S., Bai, R., Bibi, F., Horga, A., Martinez-Agosto, J.A., Lam, A., Manole, A., Rodriguez, D.P., Durigon, R., Pyle, A., Albash, B., Dionisi-Vici, C., Murphy, D., Martinelli, D., Bugiardini, E., Allis, K., Lamperti, C., Reipert, S., Risom, L., Laugwitz, L., Di Nottia, M., McFarland, R., Vilarinho, L., Hanna, M., Prokisch, H., Mayr, J.A., Bertini, E.S., Ghezzi, D., Østergaard, E., Wortmann, S., Carrozzo, R., Haack, T.B., Taylor, R.W., Spinazzola, A., Nowikovsky, K., Houlden, H.
المصدر: Am. J. Hum. Genet. 109, 1692-1712 (2022)
مصطلحات موضوعية: Genetics, Letm1, Mitochondria, Mitochondrial Diseases, Neurodegeneration, Neurology, Oxidative Phosphorylation, Potassium Transport, Volume Homeostasis, Wolf-hirschhorn Syndrome
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36055214; info:eu-repo/semantics/altIdentifier/wos/WOS:000877624100011; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66080Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
الإتاحة: https://doi.org/10.1016/j.ajhg.2022.07.007Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66080Test -
5دورية أكاديمية
المؤلفون: Cicalini I., Pieragostino D., Rizzo C., Verrocchio S., Semeraro D., Zucchelli M., Di Michele S., Dionisi-Vici C., Stuppia L., De Laurenzi V., Bucci I., Rossi C.
المساهمون: Cicalini, I., Pieragostino, D., Rizzo, C., Verrocchio, S., Semeraro, D., Zucchelli, M., Di Michele, S., Dionisi-Vici, C., Stuppia, L., De Laurenzi, V., Bucci, I., Rossi, C.
مصطلحات موضوعية: Biotinidase deficiency, Inborn errors of metabolism, Mass spectrometry, Metabolic profiling, Newborn screening
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33572391; info:eu-repo/semantics/altIdentifier/wos/MEDLINE:33572391; volume:18; issue:4; firstpage:1; lastpage:10; numberofpages:10; journal:INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH; http://hdl.handle.net/11564/746364Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100549806; https://www.mdpi.com/1660-4601/18/4/1659Test
الإتاحة: https://doi.org/10.3390/ijerph18041659Test
http://hdl.handle.net/11564/746364Test
https://www.mdpi.com/1660-4601/18/4/1659Test -
6دورية أكاديمية
المؤلفون: Brennenstuhl H., Nashawi M., Schroter J., Baronio F., Beedgen L., Gleich F., Jeltsch K., von Landenberg C., Martini S., Simon A., Thiel C., Tsiakas K., Opladen T., Kolker S., Hoffmann G. F., Haas D., Garcia-Cazorla A., Dionisi-Vici C., Martinelli D., Kozich V., Scarpa M.
المساهمون: Brennenstuhl H., Nashawi M., Schroter J., Baronio F., Beedgen L., Gleich F., Jeltsch K., von Landenberg C., Martini S., Simon A., Thiel C., Tsiakas K., Opladen T., Kolker S., Hoffmann G.F., Haas D., Garcia-Cazorla A., Dionisi-Vici C., Martinelli D., Kozich V., Scarpa M.
مصطلحات موضوعية: genotypic spectrum, HIDS, mevalonate, mevalonate kinase deficiency, mevalonic aciduria, phenotypic spectrum
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34145613; info:eu-repo/semantics/altIdentifier/wos/WOS:000667246700001; volume:44; issue:5; firstpage:1272; lastpage:1287; numberofpages:16; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11585/840819Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114693375
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7دورية أكاديمية
المؤلفون: Cianci P., D'Apolito V., Moretti A., Barbagallo M., Paci S., Carbone M. T., Lubrano R., Urbino A., Dionisi Vici C., Memo L., Zampino G., La Marca G., Villani A., Corsello G., Selicorni A., Campania A., Geremia C., Castagno E., Masi S., Poggi G., Vestri M., Fossali E., Rocchi A., DaDalt L., Arrighini A., Chiappa S., Renna S., Piccotti E., Borgna C., Govoni M. R., Biondi A., Fossati C., Iughetti L., Bertolani P., Salvatoni A., Agosti M., Fuca F., Ilardi A., Giuffrida S., DiGuardo V., Boni S., D'Antiga L., Ruggeri M., Chiaretti A., Amarri S., Peduto A., Bernardi F., Corsini I., DeAngelis G. L., Ruberto C., Zuccotti G. V., Stringhi C., Lombardi G., Salladini C., DiMichele S., Parola L., Porta A., Biasucci G., Bellini M., Ortisi M. T., Apuril E., Midulla F., Tarani L., Parlapiano G., Lietti D., Sforzini C., Marseglia G. L., Savasta S., Falsaperla R., Vitaliti M. C., Chiarelli F., Rossi N., Banderali G., Giacchero R., Bernardo L., Pinto F., Fabiani E., Ficcadenti A., Pellegrini G., Giacoma S., Biban P., Spada S., Tipo V., Ghitti C., Bolognini S., Mariani G., Russo A., Colella M. G., Verrico A., Bruni P., Poddighe D., Cagnoli G., Morandi F., Gadaleta A., Barbi E., Bruno I. I., Graziano R., Sgaramella P., Catalani M. P., Baldoni I., Colarusso G., Galvagno G., Barone A. P., Longo A., Nardella G., Portale G., Garigali G., Bona G., Erbela M., Agostiniani R., Nanni L., Schieven E., Dona M., Varisco T., Russo F., DiStefano V. A., DiPietro F., Tarallo L., Imperato L., Parisi G., Salzano R., Raiola G., Talarico V., Bellu R., Cannone A., Ferrante P.
المساهمون: Cianci, P., D'Apolito, V., Moretti, A., Barbagallo, M., Paci, S., Carbone, M. T., Lubrano, R., Urbino, A., Dionisi Vici, C., Memo, L., Zampino, G., La Marca, G., Villani, A., Corsello, G., Selicorni, A., Campania, A., Geremia, C., Castagno, E., Masi, S., Poggi, G., Vestri, M., Fossali, E., Rocchi, A., Dadalt, L., Arrighini, A., Chiappa, S., Renna, S., Piccotti, E., Borgna, C., Govoni, M. R., Biondi, A., Fossati, C., Iughetti, L., Bertolani, P., Salvatoni, A., Agosti, M., Fuca, F., Ilardi, A., Giuffrida, S., Diguardo, V., Boni, S., D'Antiga, L., Ruggeri, M., Chiaretti, A., Amarri, S., Peduto, A., Bernardi, F., Corsini, I., Deangelis, G. L., Ruberto, C., Zuccotti, G. V., Stringhi, C., Lombardi, G., Salladini, C., Dimichele, S., Parola, L., Porta, A., Biasucci, G., Bellini, M., Ortisi, M. T., Apuril, E., Midulla, F., Tarani, L., Parlapiano, G., Lietti, D., Sforzini, C., Marseglia, G. L., Savasta, S., Falsaperla, R., Vitaliti, M. C., Chiarelli, F., Rossi, N., Banderali, G., Giacchero, R., Bernardo, L., Pinto, F., Fabiani, E., Ficcadenti, A., Pellegrini, G., Giacoma, S., Biban, P., Spada, S., Tipo, V., Ghitti, C., Bolognini, S., Mariani, G., Russo, A., Colella, M. G., Verrico, A., Bruni, P., Poddighe, D., Cagnoli, G., Morandi, F., Gadaleta, A., Barbi, E., Bruno, I. I.
مصطلحات موضوعية: Children with special health care need, Congenital skeletal condition, Emergency department, Hospitalization rate, Isolated CNS malformation, Metabolic disease, Multiple AED therapy, Neuromuscular disease, Syndromic disorder, True isolated microcephaly
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33228805; info:eu-repo/semantics/altIdentifier/wos/WOS:000595681000003; volume:46; issue:1; firstpage:"-"; lastpage:"-"; numberofpages:9; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11368/2990067Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85096581416; https://ijponline.biomedcentral.com/articles/10.1186/s13052-020-00937-xTest
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8دورية أكاديمية
المؤلفون: Napolitano A., Longo D., Lucignani M., Pasquini L., Rossi-Espagnet M. C., Lucignani G., Maiorana A., Elia D., De Liso P., Dionisi-Vici C., Cusmai R.
المساهمون: Napolitano, A., Longo, D., Lucignani, M., Pasquini, L., Rossi-Espagnet, M. C., Lucignani, G., Maiorana, A., Elia, D., De Liso, P., Dionisi-Vici, C., Cusmai, R.
مصطلحات موضوعية: glutathione, ketogenic diet, magnetic resonance spectroscopy
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33321705; info:eu-repo/semantics/altIdentifier/wos/WOS:000601942400001; volume:10; issue:12; firstpage:1; lastpage:9; numberofpages:9; journal:METABOLITES; http://hdl.handle.net/11573/1481008Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097547747
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9دورية أكاديمية
المؤلفون: Montanari C., Parolisi S., Borghi E., Putignani L., Bassanini G., Zuvadelli J., Bonfanti C., Tummolo A., Dionisi Vici C., Biasucci G., Burlina A., Carbone M. T., Verduci E.
المساهمون: C. Montanari, S. Parolisi, E. Borghi, L. Putignani, G. Bassanini, J. Zuvadelli, C. Bonfanti, A. Tummolo, C. Dionisi Vici, G. Biasucci, A. Burlina, M.T. Carbone, E. Verduci
مصطلحات موضوعية: diet, enterophenotype, gut-liver axi, inborn errors of metabolism, microbiota, non-communicable diseases, Settore MED/38 - Pediatria Generale e Specialistica, Settore MED/07 - Microbiologia e Microbiologia Clinica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34588993; info:eu-repo/semantics/altIdentifier/wos/WOS:000703820700001; volume:12; firstpage:1; lastpage:16; numberofpages:16; journal:FRONTIERS IN PHYSIOLOGY; http://hdl.handle.net/2434/896579Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85115833244
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10دورية أكاديمية
المؤلفون: Lerner, S, Eilam, R, Adler, L, Baruteau, J, Kreiser, T, Tsoory, M, Brandis, A, Mehlman, T, Ryten, M, Botia, JA, Ruiz, SG, Garcia, AC, Dionisi-Vici, C, Ranucci, G, Spada, M, Mazkereth, R, McCarter, R, Izem, R, Balmat, TJ, Richesson, R, Gazit, E, Nagamani, SCS, Erez, A
المصدر: Human Genetics (2021) (In press).
مصطلحات موضوعية: Crime script · Document analysis · Ofending behavior · OSINT · Organized crime · Theft of oil
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10133933/1/Chainey-AlonsoBerbotto2021_Article_AStructuredMethodicalProcessFo.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10133933Test/
النص الكامل