المؤلفون: Bonaglia, MC, Giorda, R, Beri, S, De Agostini, C, Novara, F, Fichera, M, Grillo, L, Galesi, O, Vetro, A, Ciccone, R, Bonati, MT, Giglio, S, Guerrini, R, Osimani, S, Marelli, S, Zucca, C, Grasso, R, Borgatti, R, Mani, E, Motta, C, Molteni, M, Romano, C, Greco, D, Reitano, S, Baroncini, A, Lapi, E, Cecconi, A, Arrigo, G, Patricelli, MG, Pantaleoni, C, D'Arrigo, S, Riva, D, Sciacca, F, Dalla Bernardina, B, Zoccante, L, Darra, F, Termine, C, Maserati, E, Bigoni, S, Priolo, E, Bottani, A, Gimelli, S, Bena, F, Brusco, A, di Gregorio, E, Bagnasco, I, Giussani, U, Nitsch, L, Politi, P, Martinez-Frias, ML, Martinez-Fernandez, ML, Guardia, NM, Bremer, A, Anderlid, BM, Zuffardi, O

المصدر: PLoS genetics. 7(7):e1002173

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:123024004Test

المؤلفون: Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G., CIRILLO, Margherita, BELLIGNI, ELGA FABIA

المساهمون: Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21658225; info:eu-repo/semantics/altIdentifier/wos/WOS:000292963700001; volume:6; firstpage:38; lastpage:46; numberofpages:9; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/2318/91174Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79958047953; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141365Test/

الإتاحة: https://doi.org/10.1186/1750-1172-6-38Test
http://hdl.handle.net/2318/91174Test
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141365Test/

المؤلفون: Andreucci, E, Aftimos, S, Alcausin, M, Haan, E, Hunter, W, Kannu, P, Kerr, B, McGillivray, G, Gardner, RJM, Patricelli, MG, Sillence, D, Thompson, E, Zacharin, M, Zankl, A, Lamande, SR, Savarirayan, R

العلاقة: pii: 1750-1172-6-37; Andreucci, E., Aftimos, S., Alcausin, M., Haan, E., Hunter, W., Kannu, P., Kerr, B., McGillivray, G., Gardner, R. J. M., Patricelli, M. G., Sillence, D., Thompson, E., Zacharin, M., Zankl, A., Lamande, S. R. & Savarirayan, R. (2011). TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. ORPHANET JOURNAL OF RARE DISEASES, 6 (1), https://doi.org/10.1186/1750-1172-6-37Test.; http://hdl.handle.net/11343/264250Test

الإتاحة: https://doi.org/10.1186/1750-1172-6-37Test
http://hdl.handle.net/11343/264250Test

المؤلفون: Pirola, BM, Castiello, A, Patricelli, MG, Russo Raucci, A, Natali Sora, MG, Zambon, A, Ferrari, M., ADDIS, MARIA, MELONI, CRISTIANA

المساهمون: Pirola, Bm, Castiello, A, Patricelli, Mg, Russo Raucci, A, Natali Sora, Mg, Zambon, A, Addis, Maria, Meloni, Cristiana, Ferrari, M.

مصطلحات موضوعية: Sindrome di Lowe, OCRL1, Array-CGH

العلاقة: ispartofbook:Poster XVIII Congresso Nazionale SIGU; XVIII Congresso Nazionale SIGU; http://hdl.handle.net/11584/137357Test

الإتاحة: http://hdl.handle.net/11584/137357Test

المؤلفون: Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G., CIRILLO, Margherita, BIAMINO, ELISA

المساهمون: Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G.

مصطلحات موضوعية: KDM6A, KMT2D, Kabuki syndrome, haploinsufficiency, readthrough

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24633898; info:eu-repo/semantics/altIdentifier/wos/WOS:000337705500010; volume:35; issue:7; firstpage:841; lastpage:850; numberofpages:10; journal:HUMAN MUTATION; http://hdl.handle.net/2318/153001Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84902074147; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234006Test/

الإتاحة: https://doi.org/10.1002/humu.22547Test
http://hdl.handle.net/2318/153001Test
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234006Test/

المؤلفون: Bonomi M, Somigliana E, Cacciatore C, Busnelli M, Rossetti R, Bonetti S, Paffoni A, Mari D, Ragni G, Persani L, Arosio M, Beck Peccoz P, Biondi M, Bione S, Bruni V, Brigante C, Cannavo S, Cavallo L, Cisternino M, Colombo I, Corbetta S, Crosignani PG, D'Avanzo MG, Dalpra L, Danesino C, Di Battista E, Di Prospero F, Einaudi S, Foresta C, Fusi F, Garofalo N, Giotti I, Lanzi R, Larizza D, Locatelli N, Loli P, Madaschi S, Maghnie M, Maiore S, Mantero F, Marozzi A, Marzotti S, Migone N, Nappi R, Palli D, Patricelli MG, Pisani C, Petraglia F, Radetti G, Renieri A, Ricca I, Ripamonti A, Russo G, Russo S, Tonacchera M, Toniolo D, Torricelli F, Vegetti W, Villa N, Vineis P, Wasniewsk M, Zuffardi O., DONTI, Emilio, FALORNI, Alberto, PRONTERA, PAOLO

المساهمون: Bonomi, M, Somigliana, E, Cacciatore, C, Busnelli, M, Rossetti, R, Bonetti, S, Paffoni, A, Mari, D, Ragni, G, Persani, L, Arosio, M, Beck Peccoz, P, Biondi, M, Bione, S, Bruni, V, Brigante, C, Cannavo, S, Cavallo, L, Cisternino, M, Colombo, I, Corbetta, S, Crosignani, Pg, D'Avanzo, Mg, Dalpra, L, Danesino, C, Di Battista, E, Di Prospero, F, Donti, Emilio, Einaudi, S, Falorni, Alberto, Foresta, C, Fusi, F, Garofalo, N, Giotti, I, Lanzi, R, Larizza, D, Locatelli, N, Loli, P, Madaschi, S, Maghnie, M, Maiore, S, Mantero, F, Marozzi, A, Marzotti, S, Migone, N, Nappi, R, Palli, D, Patricelli, Mg, Pisani, C, Prontera, Paolo, Petraglia, F, Radetti, G, Renieri, A, Ricca, I, Ripamonti, A, Russo, G, Russo, S, Tonacchera, M, Toniolo, D, Torricelli, F, Vegetti, W, Villa, N, Vineis, P, Wasniewsk, M, Zuffardi, O.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22879975; info:eu-repo/semantics/altIdentifier/wos/WOS:000307284100086; volume:7; issue:8; firstpage:e42423; numberofpages:4; journal:PLOS ONE; http://hdl.handle.net/11391/1036967Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84864555458

الإتاحة: https://doi.org/10.1371/journal.pone.0042423.g001Test
http://hdl.handle.net/11391/1036967Test

المؤلفون: Rossi E, Giorda R, Bonaglia MC, Candia SD, Grechi E, Franzese A, Soli F, Rivieri F, Patricelli MG, Saccilotto D, Bonfante A, GIGLIO, SABRINA RITA, Beri S, Rocchi M, Zuffardi O.

المساهمون: Rossi, E, Giorda, R, Bonaglia, Mc, Candia, Sd, Grechi, E, Franzese, A, Soli, F, Rivieri, F, Patricelli, Mg, Saccilotto, D, Bonfante, A, Giglio, SABRINA RITA, Beri, S, Rocchi, M, Zuffardi, O.

مصطلحات موضوعية: 15q11-q13 region, Unbalanced Translocation, Prader-Willi and Angelman Syndrome, Inv dup(15)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22720067; info:eu-repo/semantics/altIdentifier/wos/WOS:000305347800052; numberofpages:8; journal:PLOS ONE; http://hdl.handle.net/11584/297659Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84862262236

الإتاحة: https://doi.org/10.1371/journal.pone.0039180Test
http://hdl.handle.net/11584/297659Test

المؤلفون: Bonaglia MC., Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Maria Bonati T, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Daria R, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid B-M, Zuffardi O

المساهمون: Bonaglia, Mc., Giorda, R, Beri, S, De Agostini, C, Novara, F, Fichera, M, Grillo, L, Galesi, O, Vetro, A, Ciccone, R, Maria Bonati, T, Giglio, S, Guerrini, R, Osimani, S, Marelli, S, Zucca, C, Grasso, R, Borgatti, R, Mani, E, Motta, C, Molteni, M, Romano, C, Greco, D, Reitano, S, Baroncini, A, Lapi, E, Cecconi, A, Arrigo, G, Patricelli, Mg, Pantaleoni, C, D'Arrigo, S, Daria, R, Sciacca, F, Dalla Bernardina, B, Zoccante, L, Darra, F, Termine, C, Maserati, E, Bigoni, S, Priolo, E, Bottani, A, Gimelli, S, Bena, F, Brusco, A, di Gregorio, E, Bagnasco, I, Giussani, U, Nitsch, L, Politi, P, Martinez-Frias, Ml, Martínez-Fernández, Ml, Martínez Guardia, N, Bremer, A, Anderlid, B-M, Zuffardi, O

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000293338600022; volume:7; firstpage:e1002173; lastpage:0; journal:PLOS GENETICS; http://hdl.handle.net/11584/297669Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79960964869

الإتاحة: http://hdl.handle.net/11584/297669Test

المؤلفون: Corre, T., Schuettler, J., Bione, S., Marozzi, A., Persani, L., Rossetti, R., Torricelli, F., Giotti, I., Vogt, P., Toniolo, D., Italian Network for the study of Ovarian Dysfunctions, Biondi M, Bruni V, Brigante C, Cisternino M, Colombo I, Crosignani PG, D'Avanzo MG, Dalprà L, Danesino C, Di Prospero F, Donti E, Falorni A, Fusi F, Lanzi R, Larizza D, Locatelli N, Madaschi S, Maghnie M, Marzotti S, Migone N, Nappi R, Palli D, Patricelli MG, Pisani C, Prontera P, Petraglia F, RENIERI, ALESSANDRA, Ricca I, Ripamonti A, Russo G, Russo S, Tibiletti MG, Tonacchera M, Vegetti W, Villa N, Vineis P, Zuffardi O.

المساهمون: Corre, T., Schuettler, J., Bione, S., Marozzi, A., Persani, L., Rossetti, R., Torricelli, F., Giotti, I., Vogt, P., Toniolo, D., Italian Network for the study of Ovarian, Dysfunction, Biondi, M, Bruni, V, Brigante, C, Cisternino, M, Colombo, I, Crosignani, Pg, D'Avanzo, Mg, Dalprà, L, Danesino, C, Di Prospero, F, Donti, E, Falorni, A, Fusi, F, Lanzi, R, Larizza, D, Locatelli, N, Madaschi, S, Maghnie, M, Marzotti, S, Migone, N, Nappi, R, Palli, D, Patricelli, Mg, Pisani, C, Prontera, P, Petraglia, F, Renieri, Alessandra, Ricca, I, Ripamonti, A, Russo, G, Russo, S, Tibiletti, Mg, Tonacchera, M, Vegetti, W, Villa, N, Vineis, P, Zuffardi, O.

مصطلحات موضوعية: Genetic risk factor, Infertility, Inhibin variant, Premature ovarian failure

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19363042; info:eu-repo/semantics/altIdentifier/wos/WOS:000268111300029; volume:24; issue:8; firstpage:2023; lastpage:2028; numberofpages:6; journal:HUMAN REPRODUCTION; http://hdl.handle.net/11365/23962Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-67651108907; https://academic.oup.com/humrep/article/24/8/2023/647610?login=trueTest

الإتاحة: https://doi.org/10.1093/humrep/dep090Test
http://hdl.handle.net/11365/23962Test
https://academic.oup.com/humrep/article/24/8/2023/647610?login=trueTest

المؤلفون: T. Corre, J. Schuettler, S. Bione, A. Marozzi, L. Persani, R. Rossetti, F. Torricelli, I. Giotti, P. Vogt, D. Toniolo, I. N. forBiondi M, Bruni V, Brigante C, Colombo I, Crosignani PG, D'Avanzo MG, Dalprà L, Di Prospero F, Donti E, Falorni A, Fusi F, Lanzi R, Locatelli N, Madaschi S, Maghnie M, Marzotti S, Migone N, Palli D, Patricelli MG, Pisani C, Prontera P, Petraglia F, Renieri A, Ricca I, Ripamonti A, Russo G, Russo S, Tibiletti MG, Tonacchera M, Vegetti W, Villa N, Vineis P, CISTERNINO, MARIANGELA, DANESINO, CESARE, LARIZZA, DANIELA, NAPPI, ROSSELLA, ZUFFARDI, ORSETTA

المساهمون: T., Corre, J., Schuettler, S., Bione, A., Marozzi, L., Persani, R., Rossetti, F., Torricelli, I., Giotti, P., Vogt, D., Toniolo, I. N., forBiondi M, Bruni, V, Brigante, C, Cisternino, Mariangela, Colombo, I, Crosignani, Pg, D'Avanzo, Mg, Dalprà, L, Danesino, Cesare, Di Prospero, F, Donti, E, Falorni, A, Fusi, F, Lanzi, R, Larizza, Daniela, Locatelli, N, Madaschi, S, Maghnie, M, Marzotti, S, Migone, N, Nappi, Rossella, Palli, D, Patricelli, Mg, Pisani, C, Prontera, P, Petraglia, F, Renieri, A, Ricca, I, Ripamonti, A, Russo, G, Russo, S, Tibiletti, Mg, Tonacchera, M, Vegetti, W, Villa, N, Vineis, P, Zuffardi, Orsetta

مصطلحات موضوعية: Adolescent, Adult, Child, Cohort Studies, Female, Gene Frequency, Genome-Wide Association Study, Humans, Inhibin, genetics, Middle Aged, Polymorphism, Single Nucleotide, Primary Ovarian Insufficiency

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19363042; info:eu-repo/semantics/altIdentifier/wos/000268111300029; volume:24; firstpage:2023; lastpage:2028; numberofpages:5; journal:HUMAN REPRODUCTION; http://hdl.handle.net/11571/580302Test; http://dx.doi.org/10.1093/humrep/dep090Test

الإتاحة: https://doi.org/10.1093/humrep/dep090Test
http://hdl.handle.net/11571/580302Test