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1دورية أكاديمية
المؤلفون: Rots, D., Jakub, T. E., Keung, C., Jackson, A., Banka, S., Pfundt, R., De Vries, B. B. A., Van Jaarsveld, R. H., Hopman, S. M. J., Van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, Francois, Goldenberg, Alice, Hertz, J. M., Andersen, C. B., Kibæk, M., Prijoles, E. J., Stevenson, R. E., Everman, D. B., Patterson, W. G., Meng, L., Gijavanekar, C., De Dios, K., Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P. J., Lopez Garcia, M. S., Perrier, R., Sousa, S. B., Almeida, P. M., Simões, M. J., Isidor, Bertrand, Deb, Wallid, Schmanski, A. A., Abdul-Rahman, O., Philippe, Christophe, Bruel, A. L., Faivre, L., Vitobello, A., Thauvin, Christel, Smits, J. J., Garavelli, L., Caraffi, S. G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L., Sinnema, M., Stegmann, A. P. A., Stumpel, C. T. R. M., Tiller, G. E., Bosch, D. G. M., Potgieter, S. T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A. G., Freitag, C. M., Satterstrom, F. K., De Rubeis, S., Buxbaum, J., Gelb, B. D., Branko, A., Kushima, I., Howe, J., Scherer, S. W., Arado, A., Baldo, C., Patat, O., Bénédicte, Demeer, Lopergolo, D., Santorelli, F. M., Haack, T. B., Dufke, A., Bertrand, M., Falb, R. J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M. F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M. F., Liebelt, J., Dagli, A. I., Aten, E., Hurst, A. C. E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, Juliette, Nicolas, G., Küpper, H., Petit, Florence, Ibrahim, V., Top, D., Di Cara, F., Louie, R. J., Stolerman, E., Brunner, H. G., Vissers, L. E. L. M., Kramer, J. M., Kleefstra, T.
المساهمون: Université de Lille, CHU Lille, CHU Rouen, Université de Rouen Normandie UNIROUEN, Cancer and Brain Genomics CBG, Service de génétique médicale - Unité de génétique clinique Nantes, Institut du Thorax Nantes, Génétique des anomalies du développement (CTM UMR 1231) GAD, Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) UF6254, Service Génétique Médicale CHU Toulouse, CHU Amiens-Picardie, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
وصف الملف: application/octet-stream
العلاقة: American Journal of Human Genetics; Am J Hum Genet; http://hdl.handle.net/20.500.12210/84123Test
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2دورية أكاديمية
المؤلفون: Bedeschi, M F, Mora, S, Antoniazzi, F, Boero, S, Ravasio, R, Scarano, G, Selicorni, A, Sessa, M, Verdoni, F, Zampino, G, Maghnie, M
المساهمون: Bedeschi, M F, Mora, S, Antoniazzi, F, Boero, S, Ravasio, R, Scarano, G, Selicorni, A, Sessa, M, Verdoni, F, Zampino, G, Maghnie, M
مصطلحات موضوعية: Achondroplasia, Clinician survey, Italy, Patient/caregiver survey, Real-world management
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37466810; info:eu-repo/semantics/altIdentifier/wos/WOS:001032063400002; firstpage:1; lastpage:12; numberofpages:12; journal:JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION; https://hdl.handle.net/11562/1100006Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165187812
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3دورية أكاديمية
المؤلفون: Bedeschi, M F, Mora, S, Antoniazzi, F, Boero, Silvio, Ravasio, R, Scarano, Gioacchino, Selicorni, A, Sessa, M, Verdoni, F, Zampino, G, Maghnie, M, Allegri, Anna Elsa Maria, Cozzaglio, Massimo, Giordano, Flavio, Intini, Sara, Locatelli, Chiara, Nasto, Luigi Aurelio, Onesimo, Roberta, Piatelli, Gianluca, Porro, Matteo, Sacco, Oliviero, Striano, Pasquale, Trespidi, Laura
المساهمون: Bedeschi, M F, Mora, S, Antoniazzi, F, Boero, Silvio, Ravasio, R, Scarano, Gioacchino, Selicorni, A, Sessa, M, Verdoni, F, Zampino, G, Maghnie, M, Allegri, Anna Elsa Maria, Cozzaglio, Massimo, Giordano, Flavio, Intini, Sara, Locatelli, Chiara, Nasto, Luigi Aurelio, Onesimo, Roberta, Piatelli, Gianluca, Porro, Matteo, Sacco, Oliviero, Striano, Pasquale, Trespidi, Laura
مصطلحات موضوعية: Achondroplasia, Clinician survey, Italy, Patient/caregiver survey, Real-world management
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37466810; info:eu-repo/semantics/altIdentifier/wos/WOS:001032063400002; volume:47; issue:2; journal:JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION; https://hdl.handle.net/11591/523429Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165187812
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4دورية أكاديمية
المؤلفون: Bedeschi, M. F., Mora, S., Antoniazzi, F., Boero, S., Ravasio, R., Scarano, G., Selicorni, A., Sessa, M., Verdoni, F., Zampino, G., Maghnie, M., the JAMP Group, Allegri, Anna Elsa Maria, Cozzaglio, Massimo, Giordano, Flavio, Intini, Sara, Locatelli, Chiara, Nasto, Luigi, Onesimo, Roberta, Piatelli, Gianluca
المصدر: Journal of Endocrinological Investigation; Feb2024, Vol. 47 Issue 2, p345-356, 12p
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5دورية أكاديمية
المؤلفون: Ciolfi A., Foroutan A., Capuano A., Pedace L., Travaglini L., Pizzi S., Andreani M., Miele E., Invernizzi F., Reale C., Panteghini C., Iascone M., Niceta M., Gavrilova R. H., Schultz-Rogers L., Agolini E., Bedeschi M. F., Prontera P., Garibaldi M., Galosi S., Leuzzi V., Soliveri P., Olson R. J., Zorzi G. S., Garavaglia B. M., Tartaglia M., Sadikovic B.
المساهمون: Ciolfi, A., Foroutan, A., Capuano, A., Pedace, L., Travaglini, L., Pizzi, S., Andreani, M., Miele, E., Invernizzi, F., Reale, C., Panteghini, C., Iascone, M., Niceta, M., Gavrilova, R. H., Schultz-Rogers, L., Agolini, E., Bedeschi, M. F., Prontera, P., Garibaldi, M., Galosi, S., Leuzzi, V., Soliveri, P., Olson, R. J., Zorzi, G. S., Garavaglia, B. M., Tartaglia, M., Sadikovic, B.
مصطلحات موضوعية: DNA methylation, Dystonia 28, Episignature, KMT2B
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34380541; info:eu-repo/semantics/altIdentifier/wos/WOS:000684214200001; volume:13; issue:1; firstpage:157; journal:CLINICAL EPIGENETICS; http://hdl.handle.net/11573/1570413Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85112295053
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6دورية أكاديمية
المؤلفون: Brizola E., Adami G., Baroncelli G. I., Bedeschi M. F., Berardi P., Boero S., Brandi M. L., Casareto L., Castagnola E., Fraschini P., Gatti D., Giannini S., Gonfiantini M. V., Landoni V., Magrelli A., Mantovani G., Michelis M. B., Nasto L. A., Panzeri L., Pianigiani E., Scopinaro A., Trespidi L., Vianello A., Zampino G., Sangiorgi L.
المساهمون: Brizola, E., Adami, G., Baroncelli, G. I., Bedeschi, M. F., Berardi, P., Boero, S., Brandi, M. L., Casareto, L., Castagnola, E., Fraschini, P., Gatti, D., Giannini, S., Gonfiantini, M. V., Landoni, V., Magrelli, A., Mantovani, G., Michelis, M. B., Nasto, L. A., Panzeri, L., Pianigiani, E., Scopinaro, A., Trespidi, L., Vianello, A., Zampino, G., Sangiorgi, L.
مصطلحات موضوعية: 2019-nCoV, Bone disease, Care, Coronaviru, COVID-19, ERN, Rare disease, Remote, Aged, Algorithm, Child, Coronavirus Infection, Female, Human, Pandemic, Pneumonia, Viral, Pregnancy, Remote Consultation, Wounds and Injurie, Betacoronavirus
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32867855; info:eu-repo/semantics/altIdentifier/wos/WOS:000567924200003; volume:15; issue:1; firstpage:228; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11577/3350916Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090107045
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7دورية أكاديمية
المؤلفون: Ghisleni, C., Parma, B., Cianci, P., De Paoli, A., Pangallo, E., Agovino, T., Cereda, A., Bedeschi, M. F., Villa, R., Fossati, C., Modena, P., Giudici, C., Morando, C., Memo, L., Onesimo, R., Zampino, G., Salvatore, S., Agosti, M., Selicorni, A.
المساهمون: Ghisleni, C., Parma, B., Cianci, P., De Paoli, A., Pangallo, E., Agovino, T., Cereda, A., Bedeschi, M. F., Villa, R., Fossati, C., Modena, P., Giudici, C., Morando, C., Memo, L., Onesimo, R., Zampino, G., Salvatore, S., Agosti, M., Selicorni, A.
مصطلحات موضوعية: celiac disease, HLA DQ2, HLA DQ8, transglutaminase antibodie, Williams-Beuren syndrome
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36254687; info:eu-repo/semantics/altIdentifier/wos/WOS:000868999400001; volume:191; issue:1; firstpage:84; lastpage:89; numberofpages:6; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11383/2150514Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85139939624
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8دورية أكاديمية
المؤلفون: Mastrogiuseppe M., Bertelsen N., Bedeschi M. F., Lee S. A.
المساهمون: Mastrogiuseppe, M., Bertelsen, N., Bedeschi, M. F., Lee, S. A.
مصطلحات موضوعية: Child, child development, preschool, female, hippocampu, human, male, neuropsychological test, spatio-temporal Analysi, Williams syndrome, memory, episodic
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31804517; info:eu-repo/semantics/altIdentifier/wos/WOS:000501550800001; volume:9; issue:1; firstpage:1; lastpage:12; numberofpages:12; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/11368/2988991Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85076094003; https://www.nature.com/articles/s41598-019-53823-wTest
الإتاحة: https://doi.org/10.1038/s41598-019-53823-wTest
http://hdl.handle.net/11368/2988991Test
https://www.nature.com/articles/s41598-019-53823-wTest -
9دورية أكاديمية
المؤلفون: Villa R., Fergnani V. G. C., Silipigni R., Guerneri S., Cinnante C., Guala A., Danesino C., Scola E., Conte G., Fumagalli M., Gangi S., Colombo L., Picciolini O., Ajmone P. F., Accogli A., Madia F., Tassano E., Scala M., Capra V., Srour M., Spaccini L., Righini A., Greco D., Castiglia L., Romano C., Bedeschi M. F.
المساهمون: R. Villa, V.G.C. Fergnani, R. Silipigni, S. Guerneri, C. Cinnante, A. Guala, C. Danesino, E. Scola, G. Conte, M. Fumagalli, S. Gangi, L. Colombo, O. Picciolini, P.F. Ajmone, A. Accogli, F. Madia, E. Tassano, M. Scala, V. Capra, M. Srour, L. Spaccini, A. Righini, D. Greco, L. Castiglia, C. Romano, M.F. Bedeschi
مصطلحات موضوعية: 5p deletion, Brain MRI, Cri-du-chat syndrome, Neuroradiological phenotype, Pontine hypoplasia, Settore MED/38 - Pediatria Generale e Specialistica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32800423; info:eu-repo/semantics/altIdentifier/wos/WOS:000579769100017; volume:28; firstpage:110; lastpage:119; numberofpages:10; journal:EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY; http://hdl.handle.net/2434/782446Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089357171
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10دورية أكاديمية
المؤلفون: Fontana L., Bedeschi M. F., Cagnoli G. A., Costanza J, Persico N., Gangi S., Porro M., Ajmone P., Colapietro P., Santaniello C., Crippa M., Sirchia s. m., Miozzo M., Tabano S.
المساهمون: L. Fontana, M.F. Bedeschi, G.A. Cagnoli, J. Costanza, N. Persico, S. Gangi, M. Porro, P. Ajmone, P. Colapietro, C. Santaniello, M. Crippa, S.M. Sirchia, M. Miozzo, S. Tabano
مصطلحات موضوعية: Beckwith-Wiedemann Syndrome, X-chromosome inactivation, prenatal diagnosi, twin, whole exome sequencing, Settore MED/03 - Genetica Medica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32627967; info:eu-repo/semantics/altIdentifier/wos/WOS:000545402700001; volume:8; issue:9; firstpage:1; lastpage:12; numberofpages:12; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/2434/772021Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85087568804