المؤلفون: McKanna, T., Ryan, A., Krinshpun, S., Kareht, S., Marchand, K., Grabarits, C., Ali, M., McElheny, A., Gardiner, K., LeChien, K., Hsu, M., Saltzman, D., Stosic, M., Martin, K., Benn, P.

المصدر: Ultrasound in Obstetrics & Gynecology ; volume 53, issue 1, page 73-79 ; ISSN 0960-7692 1469-0705

الاتاحة: http://dx.doi.org/10.1002/uog.19176
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fuog.19176
https://onlinelibrary.wiley.com/doi/pdf/10.1002/uog.19176
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/uog.19176
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/uog.19176

المؤلفون: De, Keersmaecker, D'ARRIGO, S, KAYSERILI, H, BRANDENBERGER, S, KRAOUA, I, MARK, PR, MCKANNA, T, Van, Keirsbilck, MOERMAN, P, PORETTI, A, PURI, R, Van, Esch, GLEESON, JG, VALENTE, EM, ROOSING, S, ROMANI, M, ISRIE, M, MICALIZZI, A, Altunoglu, UMUT, ROSTI, Rasim Özgür, MUSAEV, D, MAZZA, T, AL-GAZALI, L, BOLTSHAUSER, E

المساهمون: 182475

Relation: Journal of medical genetics; ROOSING S., ROMANI M., ISRIE M., ROSTI R. Ö. , MICALIZZI A., MUSAEV D., MAZZA T., AL-GAZALI L., Altunoglu U., BOLTSHAUSER E., et al., "Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.", Journal of medical genetics, cilt.53, ss.608-15, 2016; vv_1032021; av_d980e29f-c3e3-4c08-813b-22dd1d96664b; http://hdl.handle.net/20.500.12627/143444; https://doi.org/10.1136/jmedgenet-2016-103832; 53; 608; 15

الاتاحة: https://hdl.handle.net/20.500.12627/143444
https://doi.org/10.1136/jmedgenet-2016-103832

المؤلفون: Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thomas, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha L, Zankl A, Leventer R, Grattan Smith P, Janecke A, Koch J, Freilinger M, D'Hooghe M, Sznajer Y, Vilain C, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Ae Kim C, Maegawa G, Dakovic I, Loncarevic D, Mejaski Bosnjak V, Petkovic D, Abdel Salam GM, Abdel Aleem A, Marti I, Pinard JM, Quijano Roy S, Sigaudy S, de Lonlay P, Romano S, Verloes A, Touraine R, Koenig M, Dollfus H, Flori E, Fradin M, Lagier Tourenne C, Messer J, Collignon P, Penzien JM, Bussmann C, Merkenschlager A, Philippi H, Kurlemann G, Grundmann K, Dacou Voutetakis C, Kitsiou Tzeli S, Pons R, Jerney J, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Girisha KM, Doshi H, Udani V, Kaul M, Stuart B, Magee A, Spiegel R, Shalev S, Mandel H, Lev D, Michelson M, Idit M, Ben Zeev B, Gershoni Baruch R, Ficcadenti A, Fischetto R, Gentile M, Della Monica M, Pezzani M, Graziano C, Seri M, Benedicenti F, Stanzial F, Borgatti R, Romaniello R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Barone R, Sorge G, Briatore E, Bigoni S, Ferlini A, Donati MA, Biancheri R, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Mirabelli M, Pessagno A, Rossi A, Uliana V, Amorini M, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Bonati MT, Castorina P, D'Arrigo S, Lalatta F, Marra G, Moroni I, Pantaleoni C, Riva D, Scelsa B, Spaccini L, Del Giudice E, Ludwig K, Permunian A, Suppiej A, Macaluso C, Pichiecchio A, Battini R, Di Giacomo M, Priolo M, Timpani P, Pagani G, Di Sabato ML, Emma F, Leuzzi V, Mancini F, Majore S, Micalizzi A, Parisi P, Romani M, Stringini G, Zanni G, Ulgheri L, Pollazzon, M, RENIERI, ALESSANDRA, Belligni E, Grosso E, Pieri I, Silengo M, Devescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, Said E, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Salih MA, Tabarki B, Jocic Jakubi B, Martorell Sampol L, Rodriguez B, Pascual Castroviejo I, Gener B, Puschmann A, Starck L, Capone A, Lemke J, Fluss J, Niedrist D, Hennekam RC, Wolf N, Gouider Khouja N, Kraoua I, Ceylaner S, Teber S, Akgul M, Anlar B, Comu S, Kayserili H, Yüksel A, Akcakus M, Caglayan AO, Aldemir O, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hemingway C, Lees M, Wakeling E, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Karaca E, Swoboda KJ, Viskochil D, Dobyns WB, Colin, Johnson, Tania, Attié Bitach, Joseph, G. Gleeson, Enza, Maria Valente

المساهمون: Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thoma, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D'Hooghe, M, Sznajer, Y, Vilain, C, Van Coster, R, Demerleir, L, Dias, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam, Gm, Abdel Aleem, A, Marti, I, Pinard, Jm, Quijano Roy, S, Sigaudy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Dollfus, H, Flori, E, Fradin, M, Lagier Tourenne, C, Messer, J, Collignon, P, Penzien, Jm, Bussmann, C, Merkenschlager, A, Philippi, H, Kurlemann, G, Grundmann, K, Dacou Voutetakis, C, Kitsiou Tzeli, S, Pons, R, Jerney, J, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Girisha, Km, Doshi, H, Udani, V, Kaul, M, Stuart, B, Magee, A, Spiegel, R, Shalev, S, Mandel, H, Lev, D, Michelson, M, Idit, M, Ben Zeev, B, Gershoni Baruch, R, Ficcadenti, A, Fischetto, R, Gentile, M, Della Monica, M, Pezzani, M, Graziano, C, Seri, M, Benedicenti, F, Stanzial, F, Borgatti, R, Romaniello, R, Accorsi, P

مصطلحات موضوعية: Ciliopathies, INPP5E, Joubert syndrome and related disorders, Meckel syndrome

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/23386033; info:eu-repo/semantics/altIdentifier/wos/WOS:000324727200014; ispartofbook:European Journal of Human Genetics; volume:21; issue:10; firstpage:1074; lastpage:1078; numberofpages:5; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11365/960289; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84884592278

الاتاحة: http://hdl.handle.net/11365/960289
https://doi.org/10.1038/ejhg.2012.305

المؤلفون: Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonnière, M., Starck, L., Tantau, J., Gentilin, B., Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, P., Dallapiccola, B., Gleeson, J. G., Attie-Bitach, T., Valente, E. M., Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski-Bosnjak, V., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou-Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R., Bigoni, S., Ferlini, A., Andreucci, E., Donati, M. A., Genuardi, M., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Amorini, M., Briguglio, M., Briuglia, S., Rigoli, L., Salpietro, C., Tortorella, G., Adami, A., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Coppola, G., Del Giudice, E., Vitiello, G., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Macaluso, C., Signorini, S., Uggetti, C., Battini, R., Priolo, M., Cilio, M. R., D'Amico, A., Di Sabato, M. L., Emma, F., Leuzzi, V., Parisi, P., Stringini, G., Zanni, G., Pollazzon, M., Renieri, A., Vascotto, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., Mégarbané, A., Matuleviciene, A., Sabolic Avramovska, V., Said, E., De Jong, M. M., Prescott, T., Stromme, P., Von Der Lippe, C., Koul, R., Rajab, A., Azam, M., Barbot, C., Jocic-Jakubi, B., Gener Querol, B., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Strozzi, S., Fluss, J., Teber M, S., Topcu, M., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yüksel, A., Akgul, M., Akcakus, M., Al Gazali, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Sheridan, E., Barnicoat, A., Carr, L., Hennekam, R., Lees, M., McKay, F., Yates, L., Blair, E., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J., Viskochil, D.

المساهمون: Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonnière, M., Starck, L., Tantau, J., Gentilin, B., Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, P., Dallapiccola, B., Gleeson, J. G., Attie-Bitach, T., Valente, E. M., Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski-Bosnjak, V., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou-Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R.

مصطلحات موضوعية: COACH syndrome, Congenital hepatic fibrosis, Joubert syndrome, Meckel syndrome, MKS3, TMEM67

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/20232449; info:eu-repo/semantics/altIdentifier/wos/WOS:000279982000001; volume:31; issue:5; firstpage:E1319; lastpage:E1331; numberofpages:12; journal:HUMAN MUTATION; http://hdl.handle.net/11365/37808; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77951821478

الاتاحة: http://hdl.handle.net/11365/37808
https://doi.org/10.1002/humu.21239

المؤلفون: Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM Collaborators Leventer R, Grattan Smith P, Janecke A, D'Hooghe M, Van Coster R, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Abdel Salam GM, Abdel Aleem A, Zaki MS, Marti I, Quijano Roy S, de Lonlay P, Romano S, Verloes A, Touraine R, Koenig M, Lagier Tourenne C, Messer J, Philippi H, Tzeli SK, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Stuart B, Magee A, Lev D, Michelson M, Ben Zeev B, Fischetto R, Gentile M, Battaglia S, Giordano L, Pinelli L, Boccone L, Ruggieri M, BIGONI, Stefania, FERLINI, Alessandra, Donati MA, Procopio E, Caridi G, Faravelli F, Ghiggeri G, Briuglia S, Salpietro CD, Tortorella G, D'Arrigo S, Pantaleoni C, Riva D, Uziel G, Laverda AM, Permunian A, Bova S, Battini R, Cilio MR, Di Sabato M, Leuzzi V, Parisi P, Simonati A, Al Tawari AA, Bastaki L, de Jong MM, Koul R, Rajab A, Azam M, Barbot C, Rodriguez B, Pascual Castroviejo I, Kayserili H, Comu S, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Hennekam R, Lees M, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D.

المساهمون: Brancati, F, Travaglini, L, Zablocka, D, Boltshauser, E, Accorsi, P, Montagna, G, Silhavy, Jl, Barrano, G, Bertini, E, Emma, F, Rigoli, L, International JSRD Study, Group, Dallapiccola, B, Gleeson, Jg, Valente EM Collaborators Leventer, R, Grattan Smith, P, Janecke, A, D'Hooghe, M, Van Coster, R, Dias, K, Moco, C, Moreira, A, Kim, Ca, Maegawa, G, Abdel Salam, Gm, Abdel Aleem, A, Zaki, M, Marti, I, Quijano Roy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Lagier Tourenne, C, Messer, J, Philippi, H, Tzeli, Sk, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Stuart, B, Magee, A, Lev, D, Michelson, M, Ben Zeev, B, Fischetto, R, Gentile, M, Battaglia, S, Giordano, L, Pinelli, L, Boccone, L, Ruggieri, M, Bigoni, Stefania, Ferlini, Alessandra, Donati, Ma, Procopio, E, Caridi, G, Faravelli, F, Ghiggeri, G, Briuglia, S, Salpietro, Cd, Tortorella, G, D'Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Laverda, Am, Permunian, A, Bova, S, Battini, R, Cilio, Mr, Di Sabato, M, Leuzzi, V, Parisi, P, Simonati, A, Al Tawari, Aa, Bastaki, L, de Jong, Mm, Koul, R, Rajab, A, Azam, M, Barbot, C, Rodriguez, B, Pascual Castroviejo, I, Kayserili, H, Comu, S, Akcakus, M, Al Gazali, L, Sztriha, L, Nicholl, D, Woods, Cg, Bennett, C, Hurst, J, Hennekam, R, Lees, M, Bernes, S, Sanchez, H, Clark, Ae

مصطلحات موضوعية: Joubert syndrome-related disorder, molar tooth sign, nephronophthisi, RPGRIP1L

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/18565097; info:eu-repo/semantics/altIdentifier/wos/WOS:000257476200008; volume:74; issue:2; firstpage:164; lastpage:170; numberofpages:7; journal:CLINICAL GENETICS; http://hdl.handle.net/11392/533191; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-47149084412; http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC2752690&blobtype=pdf

الاتاحة: http://hdl.handle.net/11392/533191
https://doi.org/10.1111/j.1399-0004.2008.01047.x
https://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2008.01047.x
http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC2752690&blobtype=pdf

المؤلفون: Travaglini L, Brancati F, Attie Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, International JSRD Study Group, Zankl A, Leventer R, Grattan Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel Salam GM, Abdel Aleem A, Zaki MS, Marti I, Quijano Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D., CIRILLO, Margherita

المساهمون: Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D.

مصطلحات موضوعية: Joubert syndrome and related disorder, Meckel syndrome, CEP290, genomic rearrangement

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/19764032; info:eu-repo/semantics/altIdentifier/wos/WOS:000270745000018; volume:149A; issue:10; firstpage:2173; lastpage:2180; numberofpages:8; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/2318/80595; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-70349501422

الاتاحة: http://hdl.handle.net/2318/80595
https://doi.org/10.1002/ajmg.a.33025

المؤلفون: Roosing, S., Romani, M., Isrie, M., Rosti, R.O., Micalizzi, A., Musaev, D., Mazza, T., Al-Gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaecker, B., Kayserili, H., Brandenberger, S., Kraoua, I., Mark, P.R., McKanna, T., Keirsbilck, J. van, Moerman, P., Poretti, A., Puri, R., Esch, H. van, Gleeson, J.G., Valente, E.M.

المصدر: Journal of Medical Genetics; 608; 15; 0022-2593; 9; 53; ~Journal of Medical Genetics~608~15~~~0022-2593~9~53~~

URL: http://hdl.handle.net/2066/167967

المؤلفون: McKanna, T., Ryan, A., Krinshpun, S., Kareht, S., Marchand, K., Grabarits, C., Ali, M., McElheny, A., Gardiner, K., LeChien, K., Hsu, M., Saltzman, D., Stosic, M., Martin, K., Benn, P.

المصدر: Ultrasound in Obstetrics & Gynecology; Jan2019, Vol. 53 Issue 1, p73-79, 7p

مصطلحات موضوعية: DIAGNOSIS of Down syndrome, ALGORITHMS, CHROMOSOME abnormalities, COMPARATIVE studies, GESTATIONAL age, LONGITUDINAL method, RESEARCH methodology, MEDICAL cooperation, PRENATAL diagnosis, RESEARCH, EVALUATION research, PREDICTIVE tests, DIAGNOSIS

المؤلفون: Travaglini, Lorena, Brancati, Francesco., Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria, Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Petkovic, D., Abdel-Salam, G.M.H., Abdel-Aleem, A., Zaki, M.S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Kitsiou Tzeli, S., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S.R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Pinelli, L., Boccone, L., Bigoni, S., Ferlini, A., Donati, M.A., Caridi, G., Divizia, M.T., Faravelli, F., Ghiggeri, G., Pessagno, A., Briguglio, M., Briuglia, S., Salpietro, C.D., Tortorella, G., Adami, A., Castorina, P., Lalatta, F., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Del Giudice, E., Laverda, A.M., Ludwig, K., Permunian, A., Suppiej, A., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Cilio, M.R., Di Sabato, M.L., Leuzzi, V., Parisi, P., Pollazzon, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A.A., Bastaki, L., Megabane, A., Sabolic Avramovska, V., De Jong, M.M., Stromme, P., Koul, R., Rajab, A., Azam, M., Barbot, C., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I, Teber, S., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yuksel, A., Akcakus, M., Al Gazali, L., Sztriha, L., Nicholl, D., Woods, C.G., Bennett, Craig, Hurst, J., Sheridan, E., Barnicoat, A., Hennekam, R., Lees, M., Blair, E., Bernes, S., Sanchez, H., Clark, A.E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T.D., Gallager, T.E., Dobyns, W.B., Daugherty, C., Krishnamoorthy, K.S., Sarco, D., Walsh, C.A., McKanna, T., Milisa, J., Chung, W.K., De Vivo, D.C., Raynes, H., Schubert, R., Seward, A., Brooks, D.G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B.L., Holden, K., Cruse, R.P., Swoboda, K.J., Viskochil, D.

وصف الملف: application/pdf

Relation: http://dx.doi.org/10.1002/ajmg.a.33025; https://researchonline.jcu.edu.au/35700/; https://researchonline.jcu.edu.au/35700/1/35700_Travaglini_etal_2009.pdf; Travaglini, Lorena, Brancati, Francesco., Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria, Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Petkovic, D., Abdel-Salam, G.M.H., Abdel-Aleem, A., Zaki, M.S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Kitsiou Tzeli, S., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S.R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Pinelli, L., Boccone, L., Bigoni, S., Ferlini, A., Donati, M.A., Caridi, G., Divizia, M.T., Faravelli, F., Ghiggeri, G., Pessagno, A., Briguglio, M., Briuglia, S., Salpietro, C.D., Tortorella, G., Adami, A., Castorina, P., Lalatta, F., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Del Giudice, E., Laverda, A.M., Ludwig, K., Permunian, A., Suppiej, A., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Cilio, M.R., Di Sabato, M.L., Leuzzi, V., Parisi, P., Pollazzon, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A.A., Bastaki, L., Megabane, A., Sabolic Avramovska, V., De Jong, M.M., Stromme, P., Koul, R., Rajab, A., Azam, M., Barbot, C., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I, Teber, S., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yuksel, A., Akcakus, M., Al Gazali, L., Sztriha, L., Nicholl, D., Woods, C.G., Bennett, Craig, Hurst, J., Sheridan, E., Barnicoat, A., Hennekam, R., Lees, M., Blair, E., Bernes, S., Sanchez, H., Clark, A.E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T.D., Gallager, T.E., Dobyns, W.B., Daugherty, C., Krishnamoorthy, K.S., Sarco, D., Walsh, C.A., McKanna, T., Milisa, J., Chung, W.K., De Vivo, D.C., Raynes, H., Schubert, R., Seward, A., Brooks, D.G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B.L., Holden, K., Cruse, R.P., Swoboda, K.J., and Viskochil, D. (2009) Expanding CEP290 mutational spectrumin ciliopathies. American Journal of Medical Genetics: Part A, 149 (10). pp. 2173-2180.

الاتاحة: https://researchonline.jcu.edu.au/35700/1/35700_Travaglini_etal_2009.pdf

المؤلفون: Brancati F., Barrano G., Silhavy J. L., Marsh S. E., Travaglini L., Bielas S. L., Amorini M., Zablocka D., Kayserili H., Al-Gazali L., Bertini E., Boltshauser E., D'Hooghe M., FAZZI, ELEONORA, Fenerci E. Y., Hennekam R. C. M., Kiss A., Lees M. M., Marco E., Phadke S. R., Rigoli L., Romano S., Salpietro C. D., Sherr E. H., Signorini S., Stromme P., Stuart B., Sztriha L., Viskochil D. H., Yuksel A., Dallapiccola B., Valente E. M., Gleeson J. G., Grattan-Smith P., Leventer R., Janecke A., Van Coster R., Dias K., Moco C., MOREIRA DA SILVA, CLAUDIA ALEXANDRA, Chong A. K., Maegawa G., Abdel-Salam G. M. H., Abdel-Aleem A., Zaki M. S., Marti I., Quijano-Roy S., De Lonlay P., Verloes A., Touraine R., Koenig M., Lagier-Tourenne C., Messer J., Philippi H., Tzeli S. K., Halldorsson S., Johannsdottir J., Ludvigsson P., Magee A., Lev D., Michelson M., Ben-Zeev B., Fischetto R., Gentile M., Battaglia S., Giordano L., Boccone L., Ruggieri M., Bigoni S., Ferlini A., Donati M. A., Procopio E., Caridi G., Faravelli F., Ghiggeri G., Briuglia S., Tortorella G., D'Arrigo S., Pantaleoni C., Riva D., Uziel G., Lavercla A. M., Permunian A., Bova S., BATTINI, ROBERTA, Cilio M. R., DI SABATO, MANUELA, Emma F., Leuzzi V., Parisi P., Simonati A., Al-Tawari A. A., Bastaki L., Aqeel A., De Jong M. M., Koul R., Rajab A., Azam M., Barbot C., Rodriguez B., Pascual-Castroviejo I., Comu S., Akcakus M., Nicholl D., Woods C. G., Bennett C., Hurst J., Walsh C. A., Bernes S., Sanchez H., Clark A. E., Donahue C., Hahn J., Sanger T. D., Gallager T. E., Dobyns W. B., Daugherty C., Krishnamoorthy K. S., Sarco D., McKanna T., Milisa J., Chung W. K., De Vivo D. C., Raynes H., Schubert R., Seward A., Brooks D. G., Goldstein A., Caldwell J., Finsecke E., Maria B. L., Holden K., Cruse R. P., Swoboda K. J.

المساهمون: Brancati, F., Barrano, G., Silhavy, J. L., Marsh, S. E., Travaglini, L., Bielas, S. L., Amorini, M., Zablocka, D., Kayserili, H., Al-Gazali, L., Bertini, E., Boltshauser, E., D'Hooghe, M., Fazzi, Eleonora, Fenerci, E. Y., Hennekam, R. C. M., Kiss, A., Lees, M. M., Marco, E., Phadke, S. R., Rigoli, L., Romano, S., Salpietro, C. D., Sherr, E. H., Signorini, S., Stromme, P., Stuart, B., Sztriha, L., Viskochil, D. H., Yuksel, A., Dallapiccola, B., Valente, E. M., Gleeson, J. G., Grattan-Smith, P., Leventer, R., Janecke, A., Van Coster, R., Dias, K., Moco, C., MOREIRA DA SILVA, CLAUDIA ALEXANDRA, Chong, A. K., Maegawa, G., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., De Lonlay, P., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Gentile, M., Battaglia, S., Giordano, L., Boccone, L., Ruggieri, M., Bigoni, S., Ferlini, A., Donati, M. A., Procopio, E., Caridi, G., Faravelli, F., Ghiggeri, G., Briuglia, S., Tortorella, G., D'Arrigo, S., Pantaleoni, C., Riva, D., Uziel, G., Lavercla, A. M., Permunian, A., Bova, S., Battini, Roberta, Cilio, M. R., DI SABATO, Manuela, Emma, F., Leuzzi, V., Parisi, P., Simonati, A., Al-Tawari, A. A., Bastaki, L., Aqeel, A., De Jong, M. M., Koul, R., Rajab, A., Azam, M., Barbot, C., Rodriguez, B.

مصطلحات موضوعية: Abnormalities, Multiple, Adolescent, Adult, Antigens, Neoplasm, Brain, Child, Preschool, Cohort Studie, DNA Mutational Analysi, Female, Human, Kidney Disease, Magnetic Resonance Imaging, Male, Molar, Mutation, Neoplasm Protein, Ocular Motility Disorder, Phenotype, Syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/17564967; info:eu-repo/semantics/altIdentifier/wos/WOS:000247039700009; volume:81; issue:1; firstpage:104; lastpage:113; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11573/1324198; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-34347225615

الاتاحة: http://hdl.handle.net/11573/1324198
https://doi.org/10.1086/519026

المؤلفون: Brancati, F., Barrano, G., Silhavy, J. L., Marsh, S. E., Travaglini, L., Bielas, S. L., Amorini, M., Zablocka, D., Kayserili, H., Al-Gazali, L., Bertini, E., Boltshauser, E., D'Hooghe, M., Fazzi, Eleonora, Fenerci, E. Y., Hennekam, R. C. M., Kiss, A., Lees, M. M., Marco, E., Phadke, S. R., Rigoli, L., Romano, S., Salpietro, C. D., Sherr, E. H., Signorini, S., Stromme, P., Stuart, B., Sztriha, L., Viskochil, D. H., Yuksel, A., Dallapiccola, B., Valente, E. M., Gleeson, J. G., Grattan-Smith, P., Leventer, R., Janecke, A., Van Coster, R., Dias, K., Moco, C., MOREIRA DA SILVA, CLAUDIA ALEXANDRA, Chong, A. K., Maegawa, G., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., De Lonlay, P., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Gentile, M., Battaglia, S., Giordano, L., Boccone, L., Ruggieri, M., Bigoni, S., Ferlini, A., Donati, M. A., Procopio, E., Caridi, G., Faravelli, F., Ghiggeri, G., Briuglia, S., Tortorella, G., D'Arrigo, S., Pantaleoni, C., Riva, D., Uziel, G., Lavercla, A. M., Permunian, A., Bova, S., Battini, Roberta, Cilio, M. R., DI SABATO, Manuela, Emma, F., Leuzzi, V., Parisi, P., Simonati, A., Al-Tawari, A. A., Bastaki, L., Aqeel, A., De Jong, M. M., Koul, R., Rajab, A., Azam, M., Barbot, C., Rodriguez, B., Pascual-Castroviejo, I., Comu, S., Akcakus, M., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Walsh, C. A., Bernes, S., Sanchez, H., Clark, A. E., Donahue, C., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Mckanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J.

المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatric Genetics

المصدر: American journal of human genetics, 81(1), 104-113. Cell Press

مصطلحات موضوعية: Male, Pathology, DNA Mutational Analysis, Cell Cycle Proteins, medicine.disease_cause, Ciliopathies, Ocular Motility Disorders, Cohort Studies, Joubert syndrome–related disorders, CEP290, Genetics(clinical), Child, Genetics (clinical), Genetics, Mutation, Brain, Syndrome, Phenotype, Magnetic Resonance Imaging, Kidney Diseases, Molar, Neoplasm Proteins, Child, Preschool, Abnormalities, Multiple, Adolescent, Adult, Antigens, Neoplasm, Female, Humans, Abnormalities, Multiple, medicine.medical_specialty, Biology, Article, Joubert syndrome, Central nervous system disease, medicine, Antigens, Preschool, Genetic heterogeneity, medicine.disease, Cytoskeletal Proteins, Situs inversus, Neoplasm

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f20692bf53f4682fff08adc771e37911
http://hdl.handle.net/11562/338013

المؤلفون: Brancati, F, Barrano, G, Silhavy, Jl, Marsh, Se, Travaglini, L, Bielas, Sl, Amorini, M, Zablocka, D, Kayserili, H, Al Gazali, L, Bertini, E, Boltshauser, E, D'Hooghe, M, Fazzi, E, Fenerci, Ey, Hennekam, Rc, Kiss, A, Lees, Mm, Marco, E, Phadke, Sr, Rigoli, L, Romano, S, Salpietro, Cd, Sherr, Eh, Signorini, S, Stromme, P, Stuart, B, Sztriha, L, Viskochil, Dh, Yuksel, A, Dallapiccola, [International JSRD Study Group], Valente, Em, Gleeson, Jg, Smith, P, Leventer, R, Janecke, A, Van Coster, R, Dias, K, Moco, C, Moreira, A, Chong, Ak, Maegawa, G, Abdel Salam GMH, Abdel Aleem, A, Zaki, Ms, Martu, I, Quijano Roy, S, De Lonlay, P, Verloes, A, Touraine, R, Koenig, M, Lagier Tourenne, C, Messer, J, Philippi, H, Tzeli, Sk, Halldorsson, S, Johannsdotir, J, Ludvigsson, P, Magee, A, Lev, D, Michelson, M, Ben Zev, B, Fischetto, R, Gentile, M, Battaglia, S, Giordano, L, Boccone, L, Ruggieri, Martino, Bigoni, S, Ferlini, A, Donati, Ma, Procopio, E, Cardidi, G, Faravelli, F, Ghiggeri, G, Briuglia, S, Tortorella, G, D’Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Lavercla, Am, Permunian, A, Bova, S, Battini, R, Cilio, Mr, Di Sabato, M, Emma, F, Leuzzi, V, Parisi, P, Simonati, A, Al Tawari AA, Bastaki, L, Aqeel, A, De Jong MM, Koul, R, Rajab, A, Azam, M, Barbot, C, Rodriguez, B, Pascual Castroviejo, I, Comu, S, Akcakus, M, Nicholl, D, Woods, Cg, Bennet, C, Hurst, J, Walsh, Ca, Bernes, S, Sanchez, H, Clark, Ae, Donahue, C, Hahn, J, Sanger, Td, Gallager, Te, Dobyns, Wb, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Mckanna, T, Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Holden, K, Cruse, Rp, Swoboda, Kj

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______4731::29b1808833eda2cd10499a763567881a
http://hdl.handle.net/20.500.11769/55023