المؤلفون: Apellaniz-Ruiz, Maria, Segni, Maria, Kettwig, Matthias, Glüer, Sylvia, Pelletier, Dylan, Nguyen, Van-Hung, Wagener, Rabea, LOPEZ, Maria Cristina, Muchantef, Karl, Bouron-Dal Soglio, Dorothée, Sabbaghian, Nelly, Wu, Mona K, Zannella, Stefano, Fabian, Marc R, Siebert, Reiner, Menke, Jan, Priest, John R, Foulkes, William D

المساهمون: Apellaniz-Ruiz, Maria, Segni, Maria, Kettwig, Matthia, Glüer, Sylvia, Pelletier, Dylan, Nguyen, Van-Hung, Wagener, Rabea, Lopez, Maria Cristina, Muchantef, Karl, Bouron-Dal Soglio, Dorothée, Sabbaghian, Nelly, Wu, Mona K, Zannella, Stefano, Fabian, Marc R, Siebert, Reiner, Menke, Jan, Priest, John R, Foulkes, William D

مصطلحات موضوعية: child, preschool, dead-box rna helicase, female, genetic predisposition to disease, hamartoma, human, liver, liver disease, male, mesoderm, microrna, neoplastic syndrome, hereditary, pedigree, phenotype, ribonuclease iii, chromosome, pair 19, germ-line mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31067372; info:eu-repo/semantics/altIdentifier/wos/WOS:000467769800009; volume:380; issue:19; firstpage:1834; lastpage:1842; numberofpages:9; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11573/1271402Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065558766

الإتاحة: https://doi.org/10.1056/NEJMoa1812169Test
http://hdl.handle.net/11573/1271402Test

المؤلفون: Elli, Francesca Marta, Bordogna, Paolo, De Sanctis, Luisa, Giachero, Federica, Verrua, Elisa, Segni, Maria, Mazzanti, Laura, Boldrin, Valentina, Toromanovic, Alma, Spada, Anna, Mantovani, Giovanna

المساهمون: Elli, Francesca Marta, Bordogna, Paolo, De Sanctis, Luisa, Giachero, Federica, Verrua, Elisa, Segni, Maria, Mazzanti, Laura, Boldrin, Valentina, Toromanovic, Alma, Spada, Anna, Mantovani, Giovanna*

مصطلحات موضوعية: ACRODYSOSTOSIS, AHO, GNAS, PDE4D, PRKAR1A, Adolescent, Adult, Child, Preschool, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit, Cyclic Nucleotide Phosphodiesterases, Type 4, Female, Human, Italy, Male, Pseudopseudohypoparathyroidism, Mutation, Missense, Endocrinology, Diabetes and Metabolism, Orthopedics and Sports Medicine

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26763073; info:eu-repo/semantics/altIdentifier/wos/WOS:000377269200012; volume:31; issue:6; firstpage:1215; lastpage:1224; numberofpages:10; journal:JOURNAL OF BONE AND MINERAL RESEARCH; http://hdl.handle.net/11585/628481Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84971553908; http://onlinelibrary.wiley.com/journal/10.1002Test/(ISSN)1523-4681

الإتاحة: https://doi.org/10.1002/jbmr.2785Test
http://hdl.handle.net/11585/628481Test

المؤلفون: Elli, Francesca Marta, Bordogna, Paolo, De Sanctis, Luisa, Giachero, Federica, Verrua, Elisa, Segni, Maria, Mazzanti, Laura, Boldrin, Valentina, Toromanovic, Alma, Spada, Anna, Mantovani, Giovanna

المساهمون: Elli, Francesca Marta, Bordogna, Paolo, De Sanctis, Luisa, Giachero, Federica, Verrua, Elisa, Segni, Maria, Mazzanti, Laura, Boldrin, Valentina, Toromanovic, Alma, Spada, Anna, Mantovani, Giovanna

المصدر: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 31(6)

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, Adolescent, Endocrinology, Diabetes and Metabolism, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit, Mutation, Missense, PDE4D, GNAS, Endocrinology, Humans, Orthopedics and Sports Medicine, Child, ACRODYSOSTOSIS, AHO, PRKAR1A, Medicine (all), Cyclic Nucleotide Phosphodiesterases, Type 4, Diabetes and Metabolism, Italy, Child, Preschool, Pseudopseudohypoparathyroidism, Female, Human

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::870c35f26194fce3f3148110f29fbb61Test
https://pubmed.ncbi.nlm.nih.gov/26763073Test

المؤلفون: MUSSA, ALESSANDRO, BONA, Gianni, Salerno, Maria Carolina, Wasniewska, Malgorzata, Segni, Maria, Cassio, Alessandra, Vigone, Maria Cristina, Gastaldi, Roberto, Iughetti, Lorenzo, Santanera, Arianna, Capalbo, Donatella, Matarazzo, Patrizia, De Luca, Filippo, Weber, Giovanna, Corrias, Andrea

المساهمون: Mussa, Alessandro, Salerno, Maria Carolina, Bona, Gianni, Wasniewska, Malgorzata, Segni, Maria, Cassio, Alessandra, Vigone, Maria Cristina, Gastaldi, Roberto, Iughetti, Lorenzo, Santanera, Arianna, Capalbo, Donatella, Matarazzo, Patrizia, De Luca, Filippo, Weber, Giovanna, Corrias, Andrea

مصطلحات موضوعية: BMI, Body mass index, FNAB, Fine-needle aspiration biopsy, TSH, Thyroid-stimulating hormone, Adolescent, Biopsy, Fine-Needle, Cell Proliferation, Child, Preschool, Cohort Studie, Female, Human, Infant, Male, Prevalence, Regression Analysi, Retrospective Studie, Thyroid Neoplasm, Thyroid Nodule, Thyrotropin, Pediatrics, Perinatology and Child Health

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23972643; info:eu-repo/semantics/altIdentifier/wos/WOS:000326274600049; volume:163; issue:5; firstpage:1465; lastpage:1470; numberofpages:6; journal:THE JOURNAL OF PEDIATRICS; http://hdl.handle.net/2318/1614348Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84886722211

الإتاحة: https://doi.org/10.1016/j.jpeds.2013.07.003Test
http://hdl.handle.net/2318/1614348Test

المؤلفون: Domenico Vladimiro Libri, Gunnar, Kleinau, Valeria, Vezzoli, Marta, Busnelli, Fabiana, Guizzardi, Antonio Agostino Sinisi, Angela Ida Pincelli, Antonio, Mancini, Gianni, Russo, Paolo Beck Peccoz, Sandro, Loche, Claudio, Crivellaro, Maghnie, Mohamad, Csilla, Krausz, Luca, Persani, Marco, Bonomi, Aimaretti, G., Altobelli, M., Arnaldi, G., Baldi, M., Bartalena, L., Beccaria, L., Bellastella, G., Bellizzi, M., Bona, G., Borretta, G., Buzi, F., Cannavo, S., Cappa, M., Cariboni, A., Ciampani, T., Cicognani, A., Cisternino, M., Corbetta, S., Corciulo, N., Corona, G., Cozzi, R., D'Elia, A. V., Degli Uberti, E., De Marchi, M., Forti, G., Di Iorgi, N., Isidori, Andrea, Fabbri, A., Ferlin, A., Foresta, C., Franceschi, R., Garolla, A., Gaudino, R., Giagulli, V., Grosso, E., Jannini, E., Lanfranco, F., Larizza, L., Lenzi, A., Lombardo, Francesco, Limone, P., Maggi, M., Maggi, R., Maggio, M. C., Mandrile, G., Marino, M., Mencarelli, M. A., Migone, N., Neri, G., Perroni, L., Pignatti, E., Pilotta, A., Pizzocaro, A., Pontecorvi, A., Pozzobon, G., Prodam, F., Radetti, G., Razzore, P., Salerno, M. C., Salvatoni, A., Salvini, F., Secco, A., Segni, Maria, Simoni, M., Vigneri, R., Weber, G.

المساهمون: Libri, Dv, Kleinau, G, Vezzoli, V, Busnelli, M, Guizzardi, F, Sinisi, Antonio Agostino, Pincelli, Ai, Mancini, A, Russo, G, Beck Peccoz, P, Loche, S, Crivellaro, C, Maghnie, M, Krausz, C, Persani, L, Bonomi, M., Libri DV, Kleinau G, Vezzoli V, Busnelli M, Guizzardi F, Sinisi AA, Pincelli AI, Mancini A, Russo G, Beck-Peccoz P, Loche S, Crivellaro C, Maghnie M, Krausz C, Persani L, Bonomi M, Maggio MC, et al, Libri, Domenico Vladimiro, Kleinau, Gunnar, Vezzoli, Valeria, Busnelli, Marta, Guizzardi, Fabiana, Pincelli, Angela Ida, Mancini, Antonio, Russo, Gianni, Beck Peccoz, Paolo, Loche, Sandro, Crivellaro, Claudio, Maghnie, Mohamad, Krausz, Csilla, Persani, Luca, Bonomi, Marco, Salerno, Mariacarolina

مصطلحات موضوعية: Male, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Inositol Phosphate, medicine.disease_cause, Biochemistry, Hypogonadotropic hypogonadism, Germline, Receptors, G-Protein-Coupled, Cohort Studies, Endocrinology, Settore MED/38 - Pediatria Generale E Specialistica, Adolescent, Adult, Child, Cyclic AMP, Female, Genetic Association Studies, Humans, Hypogonadism, Inositol Phosphates, Middle Aged, Mutation, Missense, Receptors, Peptide, Signal Transduction, Young Adult, Germ-Line Mutation, Receptors, mutations, septo-optic dysplasia, Missense mutation, Receptor, Mutation, Prokineticin, Peptide, Human, medicine.medical_specialty, Adolescent, Adult, Child, Cohort Studies, Cyclic AMP, metabolism, Female, Genetic Association Studies, Germ-Line Mutation, Humans, Hypogonadism, epidemiology/genetics, Inositol Phosphates, metabolism, Male, Middle Aged, Missense, Receptors, G-Protein-Coupled, genetics, Receptors, genetics, Signal Transduction, genetics, Young Adult, Genetic Association Studie, Biology, Germline mutation, Internal medicine, medicine, Biochemistry (medical), Prokineticin receptor 2, medicine.disease, PROKR2, hypogonadism, prokineticin, Missense, Cohort Studie

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87417b823a6d0021f0f7ba5c112778b1Test
http://hdl.handle.net/2318/151619Test

المؤلفون: Pucarelli, I., Accardo, F., Tarani, Luigi, Demiraj, V., Segni, Maria, Pasquino, Anna Maria

المصدر: Minerva pediatrica. 62(3)

مصطلحات موضوعية: puberty, cerebellum, precocious, Brain, Humans, Puberty, Precocious, Female, arnold-chiari malformation, Child, Magnetic Resonance Imaging, Arnold-Chiari Malformation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e5bad42c62a39284ba06701973eacc09Test
https://pubmed.ncbi.nlm.nih.gov/20467384Test