المؤلفون: Salvatore, Marco, Torreri, Paola, Grugni, Graziano, Rocchetti, Adele, Maghnie, Mohamad, Patti, Giuseppa, Crinò, Antonino, Elia, Maurizio, Greco, Donatella, Romano, Corrado, Franzese, Adriana, Mozzillo, Enza, Colao, Annamaria, Pugliese, Gabriella, Pagotto, Uberto, Lo Preiato, Valentina, Scarano, Emanuela, Schiavariello, Concetta, Tornese, Gianluca, Fintini, Danilo, Bocchini, Sarah, Osimani, Sara, De Sanctis, Luisa, Sacco, Michele, Rutigliano, Irene, Delvecchio, Maurizio, Faienza, Maria Felicia, Wasniewska, Malgorzata, Corica, Domenico, Stagi, Stefano, Guazzarotti, Laura, Maffei, Pietro, Dassie, Francesca, Taruscio, Domenica

المساهمون: Salvatore, Marco, Torreri, Paola, Grugni, Graziano, Rocchetti, Adele, Maghnie, Mohamad, Patti, Giuseppa, Crinò, Antonino, Elia, Maurizio, Greco, Donatella, Romano, Corrado, Franzese, Adriana, Mozzillo, Enza, Colao, Annamaria, Pugliese, Gabriella, Pagotto, Uberto, Lo Preiato, Valentina, Scarano, Emanuela, Schiavariello, Concetta, Tornese, Gianluca, Fintini, Danilo, Bocchini, Sarah, Osimani, Sara, De Sanctis, Luisa, Sacco, Michele, Rutigliano, Irene, Delvecchio, Maurizio, Faienza, Maria Felicia, Wasniewska, Malgorzata, Corica, Domenico, Stagi, Stefano, Guazzarotti, Laura, Maffei, Pietro, Dassie, Francesca, Taruscio, Domenica

مصطلحات موضوعية: Genetic disease, Prader–Willi syndrome, Quality, Rare disease, Registry

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36793093; info:eu-repo/semantics/altIdentifier/wos/WOS:000937162000001; volume:18; issue:1; firstpage:"-"; lastpage:"-"; numberofpages:9; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11368/3040684Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148114999; https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02633-5Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9930253Test/

الإتاحة: https://doi.org/10.1186/s13023-023-02633-5Test
https://hdl.handle.net/11368/3040684Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9930253Test/

المؤلفون: Squillario, Margherita, Bonaretti, Carola, La Valle, Alberto, Di Marco, Eddi, Piccolo, Gianluca, Minuto, Nicola, Patti, Giuseppa, Napoli, Flavia, Bassi, Marta, Maghnie, Mohamad, d’Annunzio, Giuseppe, Biassoni, Roberto

المصدر: Scientific Reports ; volume 13, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-023-36533-2Test
https://www.nature.com/articles/s41598-023-36533-2.pdfTest
https://www.nature.com/articles/s41598-023-36533-2Test

المؤلفون: Patti, Giuseppa, Scaglione, Marco, Maiorano, Nadia Gabriella, Rosti, Giulia, Divizia, Maria Teresa, Camia, Tiziana, De Rose, Elena Lucia, Zucconi, Alice, Casalini, Emilio, Napoli, Flavia, Di Iorgi, Natascia, Maghnie, Mohamad

المصدر: Frontiers in Endocrinology ; volume 14 ; ISSN 1664-2392

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.3389/fendo.2023.1213098Test

المؤلفون: Patti, Giuseppa, Malerba, Federica, Calevo, Maria Grazia, Schiavone, Maurizio, Scaglione, Marco, Casalini, Emilio, Russo, Silvia, Fava, Daniela, Bassi, Marta, Napoli, Flavia, Allegri, Anna Elsa Maria, D’Annunzio, Giuseppe, Gastaldi, Roberto, Maghnie, Mohamad, Di Iorgi, Natascia

المصدر: Frontiers in Endocrinology ; volume 14 ; ISSN 1664-2392

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.3389/fendo.2023.1172736Test

المؤلفون: Fava, Daniela, Guglielmi, Davide, Pepino, Carlotta, Angelelli, Alessia, Casalini, Emilio, Varotto, Carolina, Panciroli, Marta, Tedesco, Caterina, Camia, Tiziana, Naim, Alessandro, Allegri, Anna Elsa Maria, Patti, Giuseppa, Napoli, Flavia, Gastaldi, Roberto, Parodi, Stefano, Salerno, Maria Carolina, Maghnie, Mohamad, Di Iorgi, Natascia

المصدر: J Clin Endocrinol Metab ; ISSN:1945-7197

مصطلحات موضوعية: GH deficiency, Glucagon, ITT, Pituitary stalk interruption syndrome, Posterior pituitary ectopia, brain tumors, congenital hypopituitarism, transition, young adults

العلاقة: https://doi.org/10.1210/clinem/dgae408Test; https://pubmed.ncbi.nlm.nih.gov/38913686Test

الإتاحة: https://doi.org/10.1210/clinem/dgae408Test
https://pubmed.ncbi.nlm.nih.gov/38913686Test

المؤلفون: Patti, Giuseppa, Malerba, Federica, Calevo, Maria Grazia, Schiavone, Maurizio, Scaglione, Marco, Casalini, Emilio, Russo, Silvia, Fava, Daniela, Bassi, Marta, Napoli, Flavia, Allegri, Anna Elsa Maria, D’Annunzio, Giuseppe, Gastaldi, Roberto, Maghnie, Mohamad, Di Iorgi, Natascia

المساهمون: Ministero dell’Istruzione, dell’Università e della Ricerca

المصدر: Frontiers in Endocrinology ; volume 13 ; ISSN 1664-2392

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.3389/fendo.2022.975511Test

المؤلفون: Piccolo, Gianluca, De Rose, Elena Lucia, Bassi, Marta, Napoli, Flavia, Minuto, Nicola, Maghnie, Mohamad, Patti, Giuseppa, d’Annunzio, Giuseppe

المصدر: Frontiers in Endocrinology ; volume 13 ; ISSN 1664-2392

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.3389/fendo.2022.966344Test

المؤلفون: Tannorella, Pierpaola, Minervino, Daniele, Guzzetti, Sara, Vimercati, Alessandro, Calzari, Luciano, Patti, Giuseppa, Maghnie, Mohamad, Allegri, Anna Elsa Maria, Milani, Donatella, Scuvera, Giulietta, Mariani, Milena, Modena, Piergiorgio, Selicorni, Angelo, Larizza, Lidia, Russo, Silvia

المساهمون: Tannorella, Pierpaola, Minervino, Daniele, Guzzetti, Sara, Vimercati, Alessandro, Calzari, Luciano, Patti, Giuseppa, Maghnie, Mohamad, Allegri, Anna Elsa Maria, Milani, Donatella, Scuvera, Giulietta, Mariani, Milena, Modena, Piergiorgio, Selicorni, Angelo, Larizza, Lidia, Russo, Silvia

مصطلحات موضوعية: GNAS DMR, Mulchandani–Bhoj–Conlin syndrome, Silver Russell, UPD(20)mat, diagnostic flowchart, epigenetic deregulation, growth disorder, rare mechanism, Adult, Child, Chromogranin, Chromosomes, Human, Pair 20, Diagnosis, Differential, Female, GTP-Binding Protein alpha Subunits, Genomic Imprinting, Infant, Male, Maternal Age, Maternal Inheritance, Pathology, Molecular, Pedigree, Phenotype, Silver-Russell Syndrome, Uniparental Disomy

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33920573; info:eu-repo/semantics/altIdentifier/wos/WOS:000643046000001; volume:12; firstpage:1; lastpage:12; numberofpages:12; journal:GENES; https://hdl.handle.net/11567/1057645Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105121709

الإتاحة: https://doi.org/10.3390/genes12040588Test
https://hdl.handle.net/11567/1057645Test

المؤلفون: Gregory, Louise C, Gergics, Peter, Nakaguma, Marilena, Bando, Hironori, Patti, Giuseppa, McCabe, Mark J, Fang, Qing, Ma, Qianyi, Ozel, Ayse Bilge, Li, Jun Z, Poina, Michele Moreira, Jorge, Alexander A L, Benedetti, Anna F Figueredo, Lerario, Antonio M, Arnhold, Ivo J P, Mendonca, Berenice B, Maghnie, Mohamad, Camper, Sally A, Carvalho, Luciani R S, Dattani, Mehul T

المصدر: European Journal of Endocrinology ; volume 185, issue 1, page 121-135 ; ISSN 0804-4643 1479-683X

الإتاحة: https://doi.org/10.1530/eje-20-1453Test
https://eje.bioscientifica.com/view/journals/eje/185/1/EJE-20-1453.xmlTest
https://eje.bioscientifica.com/downloadpdf/journals/eje/185/1/EJE-20-1453.xmlTest

المؤلفون: Libraro, Annachiara, D’Ascanio, Vito, Cappa, Marco, Chiarito, Mariangela, Digilio, Maria Cristina, Einaudi, Silvia, Grandone, Anna, Maghnie, Mohamad, Mazzanti, Laura, Mussa, Alessandro, Patti, Giuseppa, Scarano, Emanuela, Spinuzza, Antonietta, Vannelli, Silvia, Wasniewska, Malgorzata Gabriela, Ferrero, Giovanni Battista, Faienza, Maria Felicia

المصدر: Frontiers in Endocrinology ; volume 12 ; ISSN 1664-2392

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.3389/fendo.2021.761171Test