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1دورية 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 autoantibodie, Adult, Autoantibodie, Female, Human, Interferon Type I, Italy, Male, Mortality, Mutation, Prevalence, Transcription Factor, Addison Disease, Candidiasis, Chronic Mucocutaneou, Hypoparathyroidism, Polyendocrinopathies, Autoimmune
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34003463; info:eu-repo/semantics/altIdentifier/wos/WOS:000651689200002; volume:44; issue:11; firstpage:2493; lastpage:2510; numberofpages:18; journal:JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION; https://hdl.handle.net/11585/860446Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106226694; https://link.springer.com/article/10.1007/s40618-021-01585-6Test
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2دورية 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 crisi, adult height, Primary adrenal insufficiency, Adolescent, Adrenal Insufficiency, Age of Onset, Child, Preschool, Cohort Studie, Comorbidity, Delayed Diagnosi, Female, Human, Infant, Italy, Male, Mutation, Prevalence, Retrospective Studies
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33247909; info:eu-repo/semantics/altIdentifier/wos/WOS:000757534100010; volume:106; firstpage:762; lastpage:773; numberofpages:12; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; http://hdl.handle.net/11567/1057649Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102911348
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3
المؤلفون: F. Bogazzi, Giorgio Radetti, Mariacarolina Salerno, B. Rees Smith, Stefano Masiero, L. de Sanctis, F. Presotto, Carla Giordano, Roberto Perniola, Valentina Camozzi, C. Betterle, Carla Scaroni, Antonella Meloni, Sarah Black, Francesca Pigliaru, Chiara Sabbadin, Alessandra Fierabracci, Carla Bizzarri, Marco Cappa, Garvin Weber, Donatella Capalbo, Susi Barollo, Jadwiga Furmaniak, Mariella Valenzise, Antonio Stigliano, A. Crinò, N. A. Greggio, Riccardo Scarpa, Silvia Garelli, Uberto Pagotto, M. Dalla Costa, A. De Bellis, Iacopo Chiodini, Shu Chen, Beatrice Rubin
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., 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., 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., Garelli, S, Dalla Costa, M, Sabbadin, C, Barollo, S, Rubin, B, Scarpa, R, Masiero, S, Fierabracci, A, Bizzarri, C, Crinò, 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
المصدر: Journal of Endocrinological Investigation
مصطلحات موضوعية: Male, Transcription Factor, Endocrinology, Diabetes and Metabolism, Autoimmune hepatitis, Gene mutation, Gastroenterology, Chronic mucocutaneous candidiasis, Endocrinology, Addison Disease, Autoimmune Polyglandular Syndrome type 1 (APS-1), Prevalence, Medicine, Polyendocrinopathies, Autoimmune, Candidiasis, Chronic Mucocutaneou, Addison’s disease, AIRE gene mutations, Autoimmune Polyglandular Syndrome type 1 (APS-1), Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), Chronic hypoparathyroidism, Chronic mucocutaneous candidiasis, Interferon autoantibodies, Candidiasis, Chronic Mucocutaneous, AIRE gene mutations, Addison’s disease, autoimmune polyglandular syndrome type 1 (APS-1), autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), chronic hypoparathyroidism, chronic mucocutaneous candidiasis, interferon autoantibodies, Autoimmune regulator, Autoantibodie, Italy, Interferon autoantibodie, Addison's disease, Interferon Type I, Original Article, Female, Chronic hypoparathyroidism, Human, Adult, medicine.medical_specialty, Autoimmune Gastritis, Hypoparathyroidism, Internal medicine, Interferon autoantibodies, Humans, Mortality, Autoantibodies, Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), business.industry, Chronic mucocutaneous candidiasi, AIRE gene mutation, Autoantibody, medicine.disease, Autoimmune polyendocrine syndrome type 1, Mutation, business, Transcription Factors
وصف الملف: ELETTRONICO
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b5fd2c7ee684fd4d65c71851e2fdb32Test
http://hdl.handle.net/11568/1123121Test -
4دورية أكاديمية
المؤلفون: VALENZISE, Mariella, WASNIEWSKA, Malgorzata Gabriela, DE LUCA, Filippo, Mirabelli S, Cervato S, Betterle C.
المساهمون: Valenzise M, Wasniewska M, Mirabelli S, De Luca F, Cervato S, Betterle C
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22450362; info:eu-repo/semantics/altIdentifier/wos/000306775100027; volume:499; issue:2; firstpage:343; lastpage:346; numberofpages:4; journal:GENE; http://hdl.handle.net/11570/2029021Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84860249721
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المؤلفون: Giovanni Battista Ferrero, Tommaso Pippucci, Giuseppina Baldassarre, Emanuele Panza, Alessandro Mussa, Margherita Silengo, Mariella Valenzise, Marco Seri, Ernesto Pepe
المساهمون: Ferrero G.B., Baldassarre G., Panza E., Valenzise M., Pippucci T., Mussa A., Pepe E., Seri M., Silengo M.C.
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Cleft lip, Cleft palate, Van der Woude syndrome, IRF6 gene, DNA Mutational Analysis, medicine.disease_cause, symbols.namesake, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetics, Mutation, business.industry, Genetic heterogeneity, Infant, Newborn, Chromosome, DNA, medicine.disease, Pedigree, Chromosomes, Human, Pair 1, Interferon Regulatory Factors, Pediatrics, Perinatology and Child Health, Etiology, Mendelian inheritance, symbols, Female, IRF6, Differential diagnosis, business, Follow-Up Studies
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f176be482cd674c718dc1427d913050Test
http://hdl.handle.net/2318/62537Test -
6
المؤلفون: Filippo De Luca, Giorgio Radetti, Renato Zanchetta, Mariella Valenzise, Roberta Giordano, Sara Cervato, Carla Giordano, Daniela Rizzo, Barbara Mariniello, Luca Morlin, Corrado Betterle, Francesca Lazzarotto
المساهمون: CERVATO, S, MARINIELLO, B, LAZZAROTTO, F, MORLIN, L, ZANCHETTA, R, RADETTI, G, DE LUCA, F, VALENZISE, M, GIORDANO, R, RIZZO, D, GIORDANO, C, BETTERLE, C
مصطلحات موضوعية: Adult, Male, Heterozygote, medicine.medical_specialty, animal structures, Adolescent, Hypoparathyroidism, Endocrinology, Diabetes and Metabolism, Gene mutation, medicine.disease_cause, Compound heterozygosity, Settore MED/13 - Endocrinologia, Cohort Studies, Loss of heterozygosity, Young Adult, Endocrinology, Addison Disease, Internal medicine, medicine, Humans, Child, Polyendocrinopathies, Autoimmune, Aged, Genetics, Mutation, Genetic heterogeneity, business.industry, Homozygote, Candidiasis, Autoantibody, Autoimmune polyendocrinopathy, Middle Aged, Autoimmune regulator, Italy, Case-Control Studies, APS1, AIRE, APECED, Female, business, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::518699e14c2438340e7c58fa73f574e4Test
http://hdl.handle.net/11577/2376513Test
