المؤلفون: Lionel, AC, Tammimies, K, Vaags, AK, Rosenfeld, JA, Ahn, JW, Merico, D, Noor, A, Runke, CK, Pillalamarri, VK, Carter, MT, Gazzellone, MJ, Thiruvahindrapuram, B, Fagerberg, C, Laulund, LW, Pellecchia, G, Lamoureux, S, Deshpande, C, Clayton-Smith, J, White, AC, Leather, S, Trounce, J, Bedford, HM, Hatchwell, E, Eis, PS, Yuen, RKC, Walker, S, Uddin, M, Geraghty, MT, Nikkel, SM, Tomiak, EM, Fernandez, BA, Soreni, N, Crosbie, J, Arnold, PD, Schachar, RJ, Roberts, W, Paterson, AD, So, J, Szatmari, P, Chrysler, C, Woodbury-Smith, M, Lowry, RB, Zwaigenbaum, L, Mandyam, D, Wei, J, MacDonald, JR, Howe, JL, Nalpathamkalam, T, Wang, ZZ, Tolson, D, Cobb, DS, Wilks, TM, Sorensen, MJ, Bader, PI, An, Y, Wu, BL, Musumeci, SA, Romano, C, Postorivo, D, Nardone, AM, Della Monica, M, Scarano, G, Zoccante, L, Novara, F, Zuffardi, O, Ciccone, R, Antona, V, Carella, M, Zelante, L, Cavalli, P, Poggiani, C, Cavallari, U, Argiropoulos, B, Chernos, J, Brasch-Andersen, C, Speevak, M, Fichera, M, Ogilvie, CM, Shen, YP, Hodge, JC, Talkowski, ME, Stavropoulos, DJ, Marshall, CR, Scherer, SW

المصدر: Human molecular genetics. 23(10):2752-2768

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:128745380Test

المؤلفون: Turco, EM, Giovenale, AMG, Sireno, L, Mazzoni, M, Cammareri, A, Marchioretti, C, Goracci, L, Di Veroli, A, Marchesan, E, D’Andrea, D, Falconieri, A, Torres, B, Bernardini, L, Magnifico, MC, Paone, A, Rinaldo, S, Della Monica, M, D’Arrigo, S, Postorivo, D, Nardone, AM, Zampino, G, Onesimo, R, Leoni, C, Caicci, F, Raimondo, D, Binda, E, Trobiani, L, De Jaco, A, Tata, AM, Ferrari, D, Cutruzzolà, F, Mazzoccoli, G, Ziviani, E, Pennuto, M, Vescovi, AL, Rosati, J

العلاقة: TURCO, E.M., GIOVENALE, A.M.G., SIRENO, L., MAZZONI, M., CAMMARERI, A., MARCHIORETTI, C., GORACCI, L., DI VEROLI, A., MARCHESAN, E., D’ANDREA, D., FALCONIERI, A., TORRES, B., BERNARDINI, L., MAGNIFICO, M.C., PAONE, A., RINALDO, S., DELLA MONICA, M., D’ARRIGO, S., POSTORIVO, D., NARDONE, A.M., ZAMPINO, G., ONESIMO, R., LEONI, C., CAICCI, F., RAIMONDO, D., BINDA, E., TROBIANI, L., DE JACO, A., TATA, A.M., FERRARI, D., CUTRUZZOLÀ, F., MAZZOCCOLI, G., ZIVIANI, E., PENNUTO, M., VESCOVI, A.L. and ROSATI, J., 2022. Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome. Cell Death and Disease, 13 (11): 981. ISSN 2041-4889

الإتاحة: https://doi.org/10.1038/s41419-022-05410-7Test
http://irep.ntu.ac.uk/id/eprint/47725Test/

المؤلفون: Orlando V, Alesi V, Di Giacomo G, Canestrelli M, Calacci C, Nardone AM, Calvieri G, Liambo MT, Sallicandro E, Di Tommaso S, Di Gregorio MG, Corrado F, Barrano G, Niceta M, Dallapiccola B, Novelli A.

المساهمون: Orlando, V, Alesi, V, Di Giacomo, G, Canestrelli, M, Calacci, C, Nardone, Am, Calvieri, G, Liambo, Mt, Sallicandro, E, Di Tommaso, S, Di Gregorio, Mg, Corrado, F, Barrano, G, Niceta, M, Dallapiccola, B, Novelli, A.

مصطلحات موضوعية: Array CGH, Copy Number Variants, General cytogenetics, Genetic counseling, Pregnancy without ultrasound anomalies

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33409881; info:eu-repo/semantics/altIdentifier/wos/WOS:000605520800002; volume:28; issue:4; firstpage:1142; lastpage:1149; numberofpages:8; journal:REPRODUCTIVE SCIENCES; https://hdl.handle.net/11570/3244193Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099017393

الإتاحة: https://doi.org/10.1007/s43032-020-00419-9Test
https://hdl.handle.net/11570/3244193Test

المؤلفون: Ferreira SI, Cinnirella G, Ramos L, Suppa A, Pires LM, Nardone AM, Camerota L, Lanciotti S, Galasso C, De Maio F, de Melo JB, Carreira IM, Brancati F.

المساهمون: Ferreira, S, Cinnirella, G, Ramos, L, Suppa, A, Pires, L, Nardone, A, Camerota, L, Lanciotti, S, Galasso, C, De Maio, F, de Melo, J, Carreira, I, Brancati, F

مصطلحات موضوعية: Settore MED/05 - PATOLOGIA CLINICA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000566740200001; volume:182; issue:11; firstpage:2694; lastpage:2698; numberofpages:5; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/2108/264637Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090305398

الإتاحة: https://doi.org/10.1002/ajmg.a.61807Test
http://hdl.handle.net/2108/264637Test

المؤلفون: Giacomozzi C, Gullotta F, Federico G, Colapietro I, Nardone AM, CIANFARANI, STEFANO

المساهمون: Giacomozzi, C, Gullotta, F, Federico, G, Colapietro, I, Nardone, A, Cianfarani, S

مصطلحات موضوعية: Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA

العلاقة: volume:152A; issue:5; firstpage:1305; lastpage:1309; journal:American Journal of Medical Genetics; http://hdl.handle.net/2108/40413Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77951759840

الإتاحة: http://hdl.handle.net/2108/40413Test

المؤلفون: Pascarella A, Fiorenza S, Masotta O, Tibollo V, Vella D, Nardone AM, Rossi M, Volanti P, Madonia F, Cstronovo G, De Cicco D, Guarnaschelli C, Achilli MP, Chiapparino C, Angelillo MT, Tommasi MA, Pisano F, Grioni G, Vezzadini G, Ferriero G, Salvaderi S, Bellazzi R, Estraneo A

المساهمون: Pascarella, A, Fiorenza, S, Masotta, O, Tibollo, V, Vella, D, Nardone, Am, Rossi, M, Volanti, P, Madonia, F, Cstronovo, G, De Cicco, D, Guarnaschelli, C, Achilli, Mp, Chiapparino, C, Angelillo, Mt, Tommasi, Ma, Pisano, F, Grioni, G, Vezzadini, G, Ferriero, G, Salvaderi, S, Bellazzi, R, Estraneo, A

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29633693; info:eu-repo/semantics/altIdentifier/wos/WOS:000428684700003; volume:33; issue:1; firstpage:19; lastpage:30; numberofpages:12; journal:FUNCTIONAL NEUROLOGY; http://hdl.handle.net/11383/2099246Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85045232361

الإتاحة: https://doi.org/10.11138/fneur/2018.33.1.019Test
http://hdl.handle.net/11383/2099246Test

المؤلفون: RESTA, Nicoletta, SUSCA, Francesco Claudio, SCHETTINI, Federico, LAFORGIA, Nicola, De Cosmo L, Capodiferro D, Nardone AM, Pastorivo D, Bertoli M, Serlenga C, Burattini M

المساهمون: Resta, Nicoletta, De Cosmo, L, Susca, Francesco Claudio, Capodiferro, D, Nardone, Am, Pastorivo, D, Bertoli, M, Serlenga, C, Burattini, M, Schettini, Federico, Laforgia, Nicola

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/PMID: 23401394; info:eu-repo/semantics/altIdentifier/wos/WOS:000315341700034; volume:161; issue:3; firstpage:632; lastpage:636; numberofpages:5; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11586/123431Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84874194715

الإتاحة: https://doi.org/10.1002/ajmg.a.35777Test
http://hdl.handle.net/11586/123431Test

المؤلفون: Novelli A, Grati FR, Ballarati L, Bernardini L, Bizzoco D, Camurri L, Casalone R, Cardarelli L, Cavalli P, Ciccone R, Dalprà L, Gentile M, Gelli G, Grammatico P, Malacarne M, Nardone AM, Pecile V, Simoni G, Zuffardi O, Giardino D., CLEMENTI, MAURIZIO

المساهمون: Novelli, A, Grati, Fr, Ballarati, L, Bernardini, L, Bizzoco, D, Camurri, L, Casalone, R, Cardarelli, L, Cavalli, P, Ciccone, R, Clementi, Maurizio, Dalprà, L, Gentile, M, Gelli, G, Grammatico, P, Malacarne, M, Nardone, Am, Pecile, V, Simoni, G, Zuffardi, O, Giardino, D.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22262341; info:eu-repo/semantics/altIdentifier/wos/WOS:000302059500003; firstpage:1; lastpage:18; numberofpages:18; journal:ULTRASOUND IN OBSTETRICS & GYNECOLOGY; http://hdl.handle.net/11577/2491790Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84859358210

الإتاحة: https://doi.org/10.1002/uog.11092Test
http://hdl.handle.net/11577/2491790Test

المؤلفون: Spielmann M, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B, Chan D, Mennen U, Klopocki E, Mundlos S., BRANCATI, Francesco

المساهمون: Spielmann, M, Brancati, Francesco, Krawitz, Pm, Robinson, Pn, Ibrahim, Dm, Franke, M, Hecht, J, Lohan, S, Dathe, K, Nardone, Am, Ferrari, P, Landi, A, Wittler, L, Timmermann, B, Chan, D, Mennen, U, Klopocki, E, Mundlos, S.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23022097; info:eu-repo/semantics/altIdentifier/wos/WOS:000309568500005; volume:91; numberofpages:6; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11564/362957Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84867276487

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.08.014Test
http://hdl.handle.net/11564/362957Test

المؤلفون: SPADONI, GIAN LUIGI, SCIRE', GIUSEPPE, CIANFARANI, STEFANO, Deodati, A, Nardone, AM, Postorivo, D, Bertoli, M, Cappa, M

المساهمون: Spadoni, Gl, Deodati, A, Scire', G, Nardone, A, Postorivo, D, Bertoli, M, Cappa, M, Cianfarani, S

مصطلحات موضوعية: Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA

العلاقة: info:eu-repo/semantics/altIdentifier/isbn/978-3-318-02155-4; ispartofbook:European Society for paediatric endocrinology (ESPE): 51st annual meeting, Leipzig, September 2012: abstracts. Supplement issue: Hormone research in paediatrics, Vol. 78 (2012), Suppl. 1; Annual meeting of the European Society for paediatric endocrinology (ESPE); http://hdl.handle.net/2108/78243Test

الإتاحة: http://hdl.handle.net/2108/78243Test