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

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.11.012Test
https://hdl.handle.net/11573/1700551Test

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

الإتاحة: https://doi.org/10.3390/pathogens12030403Test
https://hdl.handle.net/10447/620115Test

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

الإتاحة: https://doi.org/10.3389/fped.2023.1170025Test

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

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

الإتاحة: https://doi.org/10.1007/s40618-021-01585-6Test
http://hdl.handle.net/2318/1798169Test

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

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

الإتاحة: https://doi.org/10.1186/s13052-021-01142-0Test

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

الإتاحة: https://doi.org/10.3389/fimmu.2023.1172369Test
https://hdl.handle.net/11586/453622Test

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

الإتاحة: https://doi.org/10.1186/s13052-018-0524-7Test
http://hdl.handle.net/10447/393747Test

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