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1دورية أكاديمية
المؤلفون: E. Brizola, G. Adami, G. I. Baroncelli, M. F. Bedeschi, P. Berardi, S. Boero, M. L. Brandi, L. Casareto, E. Castagnola, P. Fraschini, D. Gatti, S. Giannini, M. V. Gonfiantini, V. Landoni, A. Magrelli, G. Mantovani, M. B. Michelis, L. A. Nasto, L. Panzeri, E. Pianigiani, A. Scopinaro, L. Trespidi, A. Vianello, G. Zampino, L. Sangiorgi
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
مصطلحات موضوعية: 2019-nCoV, Bone diseases, Care, Coronavirus, COVID-19, ERN, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: L. Fontana, M. F. Bedeschi, S. Maitz, A. Cereda, C. Faré, S. Motta, A. Seresini, P. D’Ursi, A. Orro, V. Pecile, M. Calvello, A. Selicorni, F. Lalatta, D. Milani, S. M. Sirchia, M. Miozzo, S. Tabano
المصدر: Epigenetics, Vol 13, Iss 9, Pp 897-909 (2018)
مصطلحات موضوعية: beckwith-wiedemann syndrome, silver-russell syndrome, multilocus imprinting disturbances, targeted next-generation sequencing, epigenotype-phenotype correlations, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: A, Mussa, S, Russo, A, de Crescenzo, A, Freschi, L, Calzari, S, Maitz, M, Macchiaiolo, C, Molinatto, G, Baldassarre, M, Mariani, L, Tarani, M F, Bedeschi, D, Milani, D, Melis, A, Bartuli, M V, Cubellis, A, Selicorni, M C, Silengo, L, Larizza, A, Riccio, G B, Ferrero
المساهمون: Mussa, A, Russo, S, de Crescenzo, A, Freschi, A, Calzari, L, Maitz, S, Macchiaiolo, M, Molinatto, C, Baldassarre, G, Mariani, M, Tarani, L, Bedeschi, M. F, Milani, D, Melis, D, Bartuli, A, Cubellis, MARIA VITTORIA, Selicorni, A, Silengo, M. C, Larizza, L, Riccio, A, Ferrero, G. B., Russo, S., de Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M. F., Milani, D., Melis, D., Bartuli, A., Cubellis, M. V., Selicorni, A., Silengo, M. C., Larizza, L., Riccio, Andrea
المصدر: Clinical genetics 90 (2016): 21–27. doi:10.1111/cge.12759
info:cnr-pdr/source/autori:Mussa, A.; Russo, S.; de Crescenzo, A.; Freschi, A.; Calzari, L.; Maitz, S.; Macchiaiolo, M.; Molinatto, C.; Baldassarre, G.; Mariani, M.; Tarani, L.; Bedeschi, M. F.; Milani, D.; Melis, D.; Bartuli, A.; Cubellis, M. V.; Selicorni, A.; Silengo, M. C.; Larizza, L.; Riccio, A.; Ferrero, G. B./titolo:Fetal growth patterns in Beckwith-Wiedemann syndrome/doi:10.1111%2Fcge.12759/rivista:Clinical genetics/anno:2016/pagina_da:21/pagina_a:27/intervallo_pagine:21–27/volume:90مصطلحات موضوعية: Beckwith-Wiedemann Syndrome, phenotype, genotype, Beckwith–Wiedemann, Gene Expression, Gestational Age, fetal growth, overgrowth, Anthropometry, Chromosomes, Human, Pair 11, Cyclin-Dependent Kinase Inhibitor p57, Fetal Development, Fetus, Genotype, Humans, Infant, Newborn, Mutation, Phenotype, Premature Birth, DNA Methylation, Genomic Imprinting, Uniparental Disomy, Chromosomes, Beckwith-Wiedemann, Fetal growth, Overgrowth, Genetics (clinical), Genetics, Pair 11, Infant, Newborn, Human
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6af8394faf64ca02aff665df96205ba2
http://hdl.handle.net/11588/667487 -
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المؤلفون: F, Natacci, M, Moschetta, M F, Bedeschi, L, Spaccini, A, Capelli, M Di, Segni, T, Rizzuti, F, Mosca, F, Lalatta
المصدر: Clinical dysmorphology. 13(4)
مصطلحات موضوعية: Craniofacial Abnormalities, Hernia, Diaphragmatic, Infant, Newborn, Teratoma, Humans, Female, Nasopharyngeal Neoplasms, Syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::51e90936d836354f2bfe675d82ea0ed8
https://pubmed.ncbi.nlm.nih.gov/15365464 -
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المؤلفون: O, Gabrielli, I, Carloni, G V, Coppa, M F, Bedeschi, M M, Petroncini, A, Selicorni
المصدر: Minerva pediatrica. 52(1-2)
مصطلحات موضوعية: Diagnosis, Differential, Male, Human Growth Hormone, Face, Intellectual Disability, Pituitary Gland, Humans, Muscle Hypotonia, Abnormalities, Multiple, Syndrome, Child
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e904c03011a34c65579c75b815ad3264
https://pubmed.ncbi.nlm.nih.gov/10829592 -
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المؤلفون: Giuseppina Baldassarre, Luigi Tarani, Agostina De Crescenzo, Maria Vittoria Cubellis, Silvia Maitz, Maria Francesca Bedeschi, Margherita Silengo, Andrea Freschi, Marina Macchiaiolo, Cristina Molinatto, Silvia Russo, Donatella Milani, Luciano Calzari, Andrea Riccio, Milena Mariani, Giovanni Battista Ferrero, Andrea Bartuli, Lidia Larizza, Daniela Melis, Angelo Selicorni, Alessandro Mussa
المساهمون: A., Mussa, S., Russo, A. D., Crescenzo, A., Freschi, L., Calzari, S., Maitz, M., Macchiaiolo, C., Molinatto, G., Baldassarre, M., Mariani, L., Tarani, M. F., Bedeschi, D., Milani, D., Meli, A., Bartuli, Cubellis, MARIA VITTORIA, A., Selicorni, M. C., Silengo, L., Larizza, A., Riccio, G. B., Ferrero, Mussa, Alessandro, Russo, Silvia, de Crescenzo, Agostina, Freschi, Andrea, Calzari, Luciano, Maitz, Silvia, Macchiaiolo, Marina, Molinatto, Cristina, Baldassarre, Giuseppina, Mariani, Milena, Tarani, Luigi, Bedeschi, Maria Francesca, Milani, Donatella, Melis, Daniela, Bartuli, Andrea, Cubellis, Maria Vittoria, Selicorni, Angelo, Cirillo Silengo, Margherita, Larizza, Lidia, Riccio, Andrea, Ferrero, Giovanni Battista
المصدر: European journal of human genetics (Online) (2015). doi:10.1038/ejhg.2015.88
info:cnr-pdr/source/autori:Mussa A.; Russo S.; de Crescenzo A.; Freschi A.; Calzari L.; Maitz S.; Macchiaiolo M.; Molinatto C.; Baldassarre G.; Mariani M.; Tarani L.; Bedeschi M.F.; Milani D.; Melis D.; Bartuli A.; Cubellis M.V.; Selicorni A.; Cirillo Silengo M.; Larizza L.; Riccio A.; Ferrero G.B./titolo:(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome/doi:10.1038%2Fejhg.2015.88/rivista:European journal of human genetics (Online)/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volumeمصطلحات موضوعية: Male, 0301 basic medicine, Hepatoblastoma, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Beckwith-Wiedemann Syndrome, Genotype, Beckwith–Wiedemann syndrome, genotype-phenotype correlation, 030105 genetics & heredity, Biology, Gastroenterology, Article, Chromosomes, Organomegaly, Genomic Imprinting, 03 medical and health sciences, paternal uniparental disonomy, assisted reproductive technology, Neoplasms, Internal medicine, Genetics, medicine, Macroglossia, Humans, Pair 11, Cyclin-Dependent Kinase Inhibitor p57, Genetic Association Studies, Genetics (clinical), Chromosomes, Human, Pair 11, Cytogenetics, DNA Methylation, Female, Phenotype, medicine.disease, Chromosomal region, Nevus flammeus, medicine.symptom, Human
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::077edba535dc3707e8803d0aa1796385
http://hdl.handle.net/11588/608470
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