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

الإتاحة: https://doi.org/20.500.12210/84123Test
https://hdl.handle.net/20.500.12210/84123Test

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

الإتاحة: https://doi.org/10.1007/s40618-023-02151-yTest
https://hdl.handle.net/11562/1100006Test

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

الإتاحة: https://doi.org/10.1007/s40618-023-02151-yTest
https://hdl.handle.net/11591/523429Test

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

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

الإتاحة: https://doi.org/10.1186/s13148-021-01145-yTest
http://hdl.handle.net/11573/1570413Test

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

الإتاحة: https://doi.org/10.1186/s13023-020-01513-6Test
http://hdl.handle.net/11577/3350916Test

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

الإتاحة: https://doi.org/10.1002/ajmg.a.62990Test
https://hdl.handle.net/11383/2150514Test

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

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

الإتاحة: https://doi.org/10.1016/j.ejpn.2020.07.002Test
http://hdl.handle.net/2434/782446Test

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

الإتاحة: https://doi.org/10.1002/mgg3.1386Test
http://hdl.handle.net/2434/772021Test