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1دورية أكاديمية
المؤلفون: Salpietro V., Maroofian R., Zaki M. S., Wangen J., Ciolfi A., Barresi S., Efthymiou S., Lamaze A., Aughey G. N., Al Mutairi F., Rad A., Rocca C., Cali E., Accogli A., Zara F., Striano P., Mojarrad M., Tariq H., Giacopuzzi E., Taylor J. C., Oprea G., Skrahina V., Rehman K. U., Abd Elmaksoud M., Bassiony M., El Said H. G., Abdel-Hamid M. S., Al Shalan M., Seo G., Kim S., Lee H., Khang R., Issa M. Y., Elbendary H. M., Rafat K., Marinakis N. M., Traeger-Synodinos J., Ververi A., Sourmpi M., Eslahi A., Khadivi Zand F., Beiraghi Toosi M., Babaei M., Jackson A., Hannah M. G., Bugiardini E., Bertini E., Kriouile Y., El-Khorassani M., Aguennouz M., Groppa S., Karashova B. M., Goraya J. S., Sultan T., Avdjieva D., Kathom H., Tincheva R., Banu S., Veggiotti P., Verrotti A., Lanari M., Savasta S., Macaya A., Garavaglia B., Borgione E., Papacostas S., Vikelis M., Chelban V., Kaiyrzhanov R., Cortese A., Sullivan R., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Lim S. -Y., Zuccotti G. V., Marseglia G. L., Esposito S., Shaikh F., Cogo P., Corsello G., Mangano S., Nardello R., Mangano D., Scardamaglia A., Koutsis G., Scuderi C., Ferrara P., Morello G., Zollo M., Berni-Canani R., Terracciano L. M., Sisto A., Di Fabio S., Strano F., Scorrano G., Di Bella S., Di Francesco L., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Xiromerisiou G., Spanaki C., Fiorillo C., Iacomino M., Gaudio E., Munell F., Gagliano A., Jan F., Chimenz R., Gitto E., Iughetti L., Di Rosa G., Maghnie M., Pettoello-Mantovani M., Gupta N., Kabra M., Benrhouma H., Tazir M., Bottone G., Farello G., Delvecchio M., Di-Donato G., Obeid M., Bakhtadze S., Saadi N. W., Miraglia-Del-Giudice M., Maccarone R., Triki C. C., Kara M., Karimiani E. G., Salih A. M., Ramenghi L. A., Seri M., Di-Falco G., Mandara L., Barrano G., Elisa M., Cherubini E., Operto F. F., Valenzise M., Cattaneo A., Zazzeroni F., Alesse E., Matricardi S., Zafar F., Ullah E., Afzal E., Rahman F., Ahmed M. M., Parisi P., Spalice A., De Filippo M., Licari A., Trebbi E., Romano F., Heimer G., Al-Khawaja I., Al-Mutairi F., Alkuraya F. S., Rizig M., Shashkin C., Zharkynbekova N., Koneyev K., Bertoli-Avella A., Pagnamenta A. T., Niceta M., Battini R., Corsello A., Leoni C., Chiarelli F., Dallapiccola B., Faqeih E. A., Tallur K. K., Alfadhel M., Alobeid E., Maddirevula S., Mankad K., Banka S., Ghayoor-Karimiani E., Tartaglia M., Chung W. K., Green R., Jepson J. E. C., Houlden H.
المساهمون: Salpietro, V., Maroofian, R., Zaki, M. S., Wangen, J., Ciolfi, A., Barresi, S., Efthymiou, S., Lamaze, A., Aughey, G. N., Al Mutairi, F., Rad, A., Rocca, C., Cali, E., Accogli, A., Zara, F., Striano, P., Mojarrad, M., Tariq, H., Giacopuzzi, E., Taylor, J. C., Oprea, G., Skrahina, V., Rehman, K. U., Abd Elmaksoud, M., Bassiony, M., El Said, H. G., Abdel-Hamid, M. S., Al Shalan, M., Seo, G., Kim, S., Lee, H., Khang, R., Issa, M. Y., Elbendary, H. M., Rafat, K., Marinakis, N. M., Traeger-Synodinos, J., Ververi, A., Sourmpi, M., Eslahi, A., Khadivi Zand, F., Beiraghi Toosi, M., Babaei, M., Jackson, A., Hannah, M. G., Bugiardini, E., Bertini, E., Kriouile, Y., El-Khorassani, M., Aguennouz, M., Groppa, S., Karashova, B. M., Goraya, J. S., Sultan, T., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Veggiotti, P., Verrotti, A., Lanari, M., Savasta, S., Macaya, A., Garavaglia, B., Borgione, E., Papacostas, S., Vikelis, M., Chelban, V., Kaiyrzhanov, R., Cortese, A., Sullivan, R., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Lim, S. -Y., Zuccotti, G. V., Marseglia, G. L., Esposito, S., Shaikh, F., Cogo, P., Corsello, G., Mangano, S., Nardello, R., Mangano, D., Scardamaglia, A., Koutsis, G., Scuderi, C., Ferrara, P., Morello, G., Zollo, M., Berni-Canani, R., Terracciano, L. M., Sisto, A., Di Fabio, S., Strano, F., Scorrano, G.
مصطلحات موضوعية: GREND syndrome, GTPBP1, GTPBP2, NBIA, animal model, ectodermal disorder, neurodegeneration, neurodevelopmental disorder, ribosome stalling, ribosomopathies
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38118446; volume:111; issue:1; firstpage:200; lastpage:210; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11573/1700551Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180561163
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2دورية أكاديمية
المؤلفون: Valenzise M., Foti Randazzese S., Toscano F., Lombardo F., Salzano G., Pajno C., Wasniewska M., Cascio A., Su M. A.
المساهمون: Valenzise M., Foti Randazzese S., Toscano F., Lombardo F., Salzano G., Pajno C., Wasniewska M., Cascio A., Su M.A.
مصطلحات موضوعية: APECED, case report, corticosteroids, COVID-19, subcutaneous immunoglobulins, type 1 IFN-Abs
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36986325; info:eu-repo/semantics/altIdentifier/wos/WOS:000958099400001; volume:12; issue:3; numberofpages:6; journal:PATHOGENS; https://hdl.handle.net/10447/620115Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85151245159
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3دورية أكاديمية
المؤلفون: Valenzise, M., Nasso, C., Scarfone, A., Rottura, M., Cafarella, G., Pallio, G., Visalli, G., Di Prima, E., Nasso, E., Squadrito, V., Wasniewska, M., Irrera, P., Arcoraci, V., Squadrito, F.
المصدر: Frontiers in Pediatrics ; volume 11 ; ISSN 2296-2360
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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4دورية أكاديمية
المؤلفون: Salzano G., Rigoli L., Valenzise M., Chimenz R., Passanisi S., Lombardo F.
المساهمون: Salzano, G., Rigoli, L., Valenzise, M., Chimenz, R., Passanisi, S., Lombardo, F.
مصطلحات موضوعية: Chronic renal failure, Deafness, Diabetes mellitus, DIDMOAD, Genetics, Optic atrophy, Therapy, Wolframin, Adult, Humans, Male, Type 1, Hearing Loss, Sensorineural, Urogenital Diseases, Wolfram Syndrome
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35010780; info:eu-repo/semantics/altIdentifier/wos/WOS:000741379300001; volume:19; issue:1, Article Number: 520; firstpage:1; lastpage:9; numberofpages:9; journal:INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH; http://hdl.handle.net/11570/3220796Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122081883; https://www.mdpi.com/1660-4601/19/1/520Test
الإتاحة: https://doi.org/10.3390/ijerph19010520Test
http://hdl.handle.net/11570/3220796Test
https://www.mdpi.com/1660-4601/19/1/520Test -
5دورية أكاديمية
المؤلفون: Garelli S., Dalla Costa M., Sabbadin C., Barollo S., Rubin B., Scarpa R., Masiero S., Fierabracci A., Bizzarri C., Crino A., Cappa M., Valenzise M., Meloni A., De Bellis A. M., Giordano C., Presotto F., Perniola R., Capalbo D., Salerno M. C., Stigliano A., Radetti G., Camozzi V., Greggio N. A., Bogazzi F., Chiodini I., Pagotto U., Black S. K., Chen S., Rees Smith B., Furmaniak J., Weber G., Pigliaru F., De Sanctis L., Scaroni C., Betterle C.
المساهمون: Garelli S., Dalla Costa M., Sabbadin C., Barollo S., Rubin B., Scarpa R., Masiero S., Fierabracci A., Bizzarri C., Crino A., Cappa M., Valenzise M., Meloni A., De Bellis A.M., Giordano C., Presotto F., Perniola R., Capalbo D., Salerno M.C., Stigliano A., Radetti G., Camozzi V., Greggio N.A., Bogazzi F., Chiodini I., Pagotto U., Black S.K., Chen S., Rees Smith B., Furmaniak J., Weber G., Pigliaru F., De Sanctis L., Scaroni C., Betterle C.
مصطلحات موضوعية: Addison’s disease, AIRE gene mutation, Autoimmune Polyglandular Syndrome type 1 (APS-1), Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), Chronic hypoparathyroidism, Chronic mucocutaneous candidiasi, Interferon autoantibodies
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34003463; info:eu-repo/semantics/altIdentifier/wos/WOS:000651689200002; firstpage:1; lastpage:18; numberofpages:18; journal:JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION; http://hdl.handle.net/2318/1798169Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106226694
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6دورية أكاديمية
المؤلفون: Capalbo D., Moracas C., Cappa M., Balsamo A., Maghnie M., Wasniewska M. G., Greggio N. A., Baronio F., Bizzarri C., Ferro G., Di Lascio A., Stancampiano M. R., Azzolini S., Patti G., Longhi S., Valenzise M., Radetti G., Betterle C., Russo G., Salerno M.
المساهمون: Capalbo, D., Moracas, C., Cappa, M., Balsamo, A., Maghnie, M., Wasniewska, M. G., Greggio, N. A., Baronio, F., Bizzarri, C., Ferro, G., Di Lascio, A., Stancampiano, M. R., Azzolini, S., Patti, G., Longhi, S., Valenzise, M., Radetti, G., Betterle, C., Russo, G., Salerno, M.
مصطلحات موضوعية: Addison’s disease, adrenal crisis, adult height, Primary adrenal insufficiency
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33247909; info:eu-repo/semantics/altIdentifier/wos/WOS:000757534100010; volume:106; issue:3; firstpage:762; lastpage:773; numberofpages:12; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; https://hdl.handle.net/11570/3204101Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102911348; https://academic.oup.com/jcem/article/106/3/762/6009010?login=trueTest
الإتاحة: https://doi.org/10.1210/clinem/dgaa881Test
https://hdl.handle.net/11570/3204101Test
https://academic.oup.com/jcem/article/106/3/762/6009010?login=trueTest -
7دورية أكاديمية
المؤلفون: Valenzise, M., D’Amico, F., Cucinotta, U., Lugarà, C., Zirilli, G., Zema, A., Wasniewska, M., Pajno, G. B.
المصدر: Italian Journal of Pediatrics ; volume 47, issue 1 ; ISSN 1824-7288
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8دورية أكاديمية
المؤلفون: Paldino G, Faienza MF, Cappa M, Pietrobattista A, Capalbo D, Valenzise M, Lampasona V, Cudini A, Carbone E, Pagliarosi O, Maggiore G, Salerno M, Betterle C, Fierabracci A.
المساهمون: Paldino, G, Faienza, Mf, Cappa, M, Pietrobattista, A, Capalbo, D, Valenzise, M, Lampasona, V, Cudini, A, Carbone, E, Pagliarosi, O, Maggiore, G, Salerno, M, Betterle, C, Fierabracci, A.
مصطلحات موضوعية: AIRE, APECED, autoimmune gastro-enteropathy, autoimmune gastroenteropathy, autoimmune hepatiti, diagnostic criteria
العلاقة: volume:14; issue:1172369; journal:FRONTIERS IN IMMUNOLOGY; https://hdl.handle.net/11586/453622Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85164869439
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9دورية أكاديمية
المؤلفون: Caffarelli C, Santamaria F, Di Mauro D, Mastrorilli C, Montella S, Tchana B, Valerio G, Verrotti A, Valenzise M, Bernasconi S, Corsello G
المساهمون: Caffarelli C, Santamaria F, Di Mauro D, Mastrorilli C, Montella S, Tchana B, Valerio G, Verrotti A, Valenzise M, Bernasconi S, Corsello G
مصطلحات موضوعية: Allergy, Endocrinology, Gastroenterology, Genetic, Immunology, Infectious disease, Neonatology, Nephrology, Neurology Pediatric, Pulmonology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30016966; info:eu-repo/semantics/altIdentifier/wos/WOS:000438915100001; volume:44; issue:1; firstpage:82; lastpage:98; numberofpages:17; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/10447/393747Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85050149029
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10دورية أكاديمية
المؤلفون: GIAMMANCO, G. M., BONURA, F., DI BERNARDO, F., CASCIO, A., FERRERA, G., DONES, P., SAPORITO, L., COLLURA, A., TERRANOVA, D. M., VALENZISE, M., ALLÙ, M. T., CASUCCIO, N., PALERMO, M., BÁNYAI, K., MARTELLA, V., DE GRAZIA, S.
المصدر: Epidemiology and Infection, 2016 Jul 01. 144(9), 1943-1950.
الوصول الحر: https://www.jstor.org/stable/26515697Test