يعرض 1 - 7 نتائج من 7 نتيجة بحث عن '"joubert syndrome-related disorder"', وقت الاستعلام: 0.38s تنقيح النتائج
  1. 1
    Academic Journal

    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

    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

  2. 2
    Academic Journal

    المساهمون: Brancati, F., Travaglini, L., Zablocka, D., Boltshauser, E., Accorsi, P., Montagna, G., Silhavy, J. L., Barrano, G., Bertini, E., Emma, F., Rigoli, L., Simonati, Alessandro, Dallapiccola, B., Gleeson, J. G., Valente, E. M.

    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/11562/338007; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-47149084412; http://dx.doi.org/10.1111/j.1399-0004.2008.01047.x

  3. 3
    Academic Journal

    المؤلفون: Francesco Brancati, L. Travaglini, D. Zablocka, E. Boltshauser, P. Accorsi, G. Montagna, J. L. Silhavy, G. Barrano, E. Bertini, F. Emma, L. Rigoli, International Jsrd Study Group, DALLA PICCOLA, Bruno, J. G. Gleeson, R. Valente Em Leventer, P. Grattan Smith, A. Janecke, M. D'Hooghe, R. Dias Van Coster, C. Moco, A. Moreira, C. A. Kim, G. Maegawa, G. M. H. Abdel Salam, A. Abdel Aleem, M. S. Zaki, I. Marti, S. Quijano Roy, P. De Lonlay, S. Romano, A. Verloes, R. Touraine, M. Koenig, C. Lagier Tourenne, J. Messer, H. Philippi, S. K. Tzeli, S. Halldorsson, J. Johannsdottir, P. Ludvigsson, S. R. Phadke, B. Stuart, A. Magee, D. Lev, M. Michelson, B. Ben Zeev, R. Fischetto, M. Gentile, S. Battaglia, L. Giordano, L. Pinelli, Boccone L. Ruggieri, S. Bigoni, A. Ferlini, M. A. Donati, E. Procopio, G. Caridi, F. Faravelli, G. Ghiggeri, S. Briuglia, C. D. Salpietro, G. Tortorella, S. D'Arrigo, C. Pantaleoni, D. Riva, G. Uziel, A. M. Laverda, A. Permunian, S. Bova, R. Battini, M. R. Cilio, M. Di Sabato, LEUZZI, Vincenzo, PARISI, Pasquale, A. Simonati, A. A. Al Tawari, L. Bastaki, Ahmad M. M. De Jong, R. Koul, A. Rajab, M. Azam, C. Barbot, B. Rodriguez, I. Pascual Castroviejo, H. Kayserili, S. Comu, M. Akcakus, L. Al Gazali, L. Sztriha, D. Nicholl, C. G. Woods, C. Bennett, J. Hurst, R. Hennekam, M. Lees, S. Bernes, H. Sanchez, A. E. Clark, E. Demarco, C. Donahue, E. Sherr, J. Hahn, T. D. Sanger, T. E. Gallager, W. B. Dobyns, C. Daugherty, K. S. Krishnamoorthy, D. Sarco, C. A. Walsh, T. Mckanna, J. Milisa, W. K. Chung, D. C. De Vivo, H. Raynes, R. Schubert, A. Seward, D. G. Brooks, A. Goldstein, J. Caldwell, E. Finsecke, Maria Bl, K. Holden, R. P. Cruse, K. G. Swoboda, D. Viskochil

    المساهمون: Francesco, Brancati, L., Travaglini, D., Zablocka, E., Boltshauser, P., Accorsi, G., Montagna, J. L., Silhavy, G., Barrano, E., Bertini, F., Emma, L., Rigoli, International Jsrd Study, Group, DALLA PICCOLA, Bruno, J. G., Gleeson, R., Valente Em Leventer, P., Grattan Smith, A., Janecke, M., D'Hooghe, R., Dias Van Coster, C., Moco, A., Moreira, C. A., Kim, G., Maegawa, G. M. H., Abdel Salam, A., Abdel Aleem, M. S., Zaki, I., Marti, S., Quijano Roy, P., De Lonlay, S., Romano, A., Verloe, R., Touraine, M., Koenig, C., Lagier Tourenne, J., Messer, H., Philippi, S. K., Tzeli, S., Halldorsson, J., Johannsdottir, P., Ludvigsson, S. R., Phadke, B., Stuart, A., Magee, D., Lev, M., Michelson, B., Ben Zeev, R., Fischetto, M., Gentile, S., Battaglia, L., Giordano, L., Pinelli, Boccone L., Ruggieri, S., Bigoni, A., Ferlini, M. A., Donati, E., Procopio, G., Caridi, F., Faravelli, G., Ghiggeri, S., Briuglia, C. D., Salpietro, G., Tortorella, S., D'Arrigo, C., Pantaleoni, D., Riva, G., Uziel, A. M., Laverda, A., Permunian, S., Bova, R., Battini, M. R., Cilio, M., Di Sabato, Leuzzi, Vincenzo, Parisi, Pasquale, A., Simonati, A. A., Al Tawari, L., Bastaki, Ahmad M. M., De Jong, R., Koul, A., Rajab, M., Azam, C., Barbot, B., Rodriguez, I., Pascual Castroviejo, H., Kayserili, S., Comu, M., Akcaku, L., Al Gazali, L., Sztriha, D., Nicholl, C. G., Wood, C., Bennett, J., Hurst, R., Hennekam, M., Lee, S., Berne, H., Sanchez, A. E., Clark, E., Demarco, C., Donahue

    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/11573/227892; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-47149084412; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000257476200008&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-47149084412&partnerID=65&md5=44e4a02e127be0ae7ab075b69af48255

  4. 4
    Academic Journal

    المؤلفون: Brancati, F., Travaglini, L., Zablocka, D., Boltshauser, E., Accorsi, P., Montagna, G., Silhavy, J. L., Barrano, G., Bertini, E., Emma, F., Rigoli, L., Leventer, Richard, Grattan Smith, Padraic, Janecke, Andreas, D'Hooghe, Marc, Van Coster, Rudy, Dias, Karin, Moco, Carla, Moreira, Ana, Kim, Chong Ae, Maegawa, Gustavo, Abdel Salam, Ghada M. H., Abdel Aleem, Alice, Zaki, Maha S., Marti, Itxaso, Quijano Roy, Susana, de Lonlay, Pascale, Romano, Stephane, Verloes, Alain, Touraine, Renaud, Koenig, Michel, Lagier Tourenne, Clotilde, Messer, Jean, Philippi, Heike, Tzeli, Sofia Kitsiou, Halldorsson, Saevar, Johannsdottir, Jonina, Ludvigsson, Peter, Phadke, Shubha R., Stuart, Bernard, Magee, Alex, Lev, Dorit, Michelson, Marina, Ben Zeev, Bruria, Fischetto, Rita, Gentile, Mattia, Battaglia, Silvia, Giordano, Lucio, Pinelli, Lorenzo, Boccone, Loredana, Ruggieri, Martino, Bigoni, Stefania, Ferlini, Alessandra, Donati, Maria Alice, Procopio, Elena, Caridi, Gianluca, Faravelli, Francesca, Ghiggeri, Gianmarco, BRIUGLIA, Silvana, SALPIETRO DAMIANO, Carmelo, Tortorella, Gaetano, D'Arrigo, Stefano, Pantaleoni, Chiara, Riva, Daria, Uziel, Graziella, Laverda, Anna Maria, Permunian, Alberto, Bova, Stefania, Battini, Roberta, Cilio, Maria Roberta, Di Sabato, Marilu, Leuzzi, Vincenzo, Parisi, Pasquale, Simonati, Alessandro, Al Tawari, Asma A., Bastaki, Laila, Ahmad, Null, de Jong, Mirjam M., Koul, Roshan, Rajab, Anna, Azam, Matloob, Barbot, Clara, Rodriguez, Berta, Pascual Castroviejo, Ignacio, Kayserili, Hulya, Comu, Sinan, Akcakus, Mustafa, Al Gazali, Lihadh, Sztriha, Laszlo, Nicholl, David, Woods, C. Geoffrey, Bennett, Christopher, Hurst, Jane, Hennekam, Raoul, Lees, Melissa, Bernes, Saunder, Sanchez, Henry, Clark, Aldon E., Demarco, Elysa, Donahue, Clement, Hahn, Jin, Sanger, Terence D., Gallager, Tomas E., Dobyns, William B., Daugherty, Cynthia, Krishnamoorthy, Kalpathy S., Sarco, Dean, Walsh, Christopher A., Mckanna, Trudy, Milisa, Joanne, Chung, Wendy K., De Vivo, Darryl C., Raynes, Hillary, Schubert, Romaine, Seward, Alison, Brooks, David G., Goldstein, Amy, Caldwell, James, Finsecke, Eco, Maria, Bernard L., Holden, Kenton, Cruse, Robert P., Swoboda, Kathryn J., Viskochil, Dave, Dallapiccola, B., Gleeson, J. G., Valente, Enza Maria

    المساهمون: Brancati, F., Travaglini, L., Zablocka, D., Boltshauser, E., Accorsi, P., Montagna, G., Silhavy, J. L., Barrano, G., Bertini, E., Emma, F., Rigoli, L., Leventer, Richard, Grattan Smith, Padraic, Janecke, Andrea, D'Hooghe, Marc, Van Coster, Rudy, Dias, Karin, Moco, Carla, Moreira, Ana, Kim, Chong Ae, Maegawa, Gustavo, Abdel Salam, Ghada M. H., Abdel Aleem, Alice, Zaki, Maha S., Marti, Itxaso, Quijano Roy, Susana, de Lonlay, Pascale, Romano, Stephane, Verloes, Alain, Touraine, Renaud, Koenig, Michel, Lagier Tourenne, Clotilde, Messer, Jean, Philippi, Heike, Tzeli, Sofia Kitsiou, Halldorsson, Saevar, Johannsdottir, Jonina, Ludvigsson, Peter, Phadke, Shubha R., Stuart, Bernard, Magee, Alex, Lev, Dorit, Michelson, Marina, Ben Zeev, Bruria, Fischetto, Rita, Gentile, Mattia, Battaglia, Silvia, Giordano, Lucio, Pinelli, Lorenzo, Boccone, Loredana, Ruggieri, Martino, Bigoni, Stefania, Ferlini, Alessandra, Donati, Maria Alice, Procopio, Elena, Caridi, Gianluca, Faravelli, Francesca, Ghiggeri, Gianmarco, BRIUGLIA, Silvana, SALPIETRO DAMIANO, Carmelo, Tortorella, Gaetano, D'Arrigo, Stefano, Pantaleoni, Chiara, Riva, Daria, Uziel, Graziella, Laverda, Anna Maria, Permunian, Alberto, Bova, Stefania, Battini, Roberta, Cilio, Maria Roberta, Di Sabato, Marilu, Leuzzi, Vincenzo, Parisi, Pasquale, Simonati, Alessandro, Al Tawari, Asma A., Bastaki, Laila, Ahmad, Null, de Jong, Mirjam M., Koul, Roshan, Rajab, Anna, Azam, Matloob, Barbot, Clara, Rodriguez, Berta, Pascual Castroviejo, Ignacio, Kayserili, Hulya, Comu, Sinan, Akcakus, Mustafa, Al Gazali, Lihadh, Sztriha, Laszlo, Nicholl, David, Woods, C. Geoffrey, Bennett, Christopher, Hurst, Jane, Hennekam, Raoul, Lees, Melissa, Bernes, Saunder, Sanchez, Henry, Clark, Aldon E., Demarco, Elysa

    وصف الملف: ELETTRONICO

    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/11570/3092293; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-47149084412

  5. 5
    Academic Journal

    المساهمون: 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, ELISA MARIA, 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, B, INTERNATIONAL JSRD STUDY, Group, Valente, ENZA MARIA, Gleeson, Jg

    مصطلحات موضوعية: Joubert syndrome-related disorder, CEP290 mutations

    وصف الملف: STAMPA

    Relation: volume:81; issue:1; firstpage:104; lastpage:113; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11571/106547

  6. 6
    Academic Journal

    المساهمون: Brancati, F, Barrano, G, Silhavy, Jl, Marsh, Se, Travaglini, L, Bielas, Sl, Amorini, Maria, Zablocka, D, Kayserili, H, AL GAZALI, L, Bertini, E, Boltshauser, E, Dhooghe, M, Fazzi, E, Fenerci, Ey, Hennekam, Rcm, Kiss, A, Lees, Mm, Marco, E, Phadke, Sr, Rigoli, Luciana Concetta, Romano, S, SALPIETRO DAMIANO, Carmelo, Sherr, Eh, Signorini, S, Stromme, P, Stuart, B, Sztriha, L, Viskochil, Dh, Yuksel, A, Dallapiccola, B, THE INTERNATIONAL JSRD STUDY, Group, Valente, Enza Maria, Gleeson, Jg

    مصطلحات موضوعية: Joubert syndromerelated disorder, CEP290

    وصف الملف: STAMPA

    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/11570/1891759; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-34347225615

  7. 7
    Academic Journal

    المساهمون: Valente, Em, Brancati, F, Silhavy, Jl, Castori, M, Marsh, Se, Barrano, G, Bertini, E, Boltshauser, E, Zaki, M, Abdel Aleem, A, Abdel Salam, Gm, Bellacchio, E, Battini, R, Cruse, Rp, Dobyns, Wb, Krishnamoorthy, K, Lagier Tourenne, C, Magee, A, Pascual Castroviejo, I, Salpietro, Cd, Sarco, D, Dallapiccola, B, Gleeson, Jg, Simonati, Alessandro

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/pmid/16453322; info:eu-repo/semantics/altIdentifier/wos/WOS:000235920000012; volume:59; issue:3; firstpage:527; lastpage:534; numberofpages:8; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11562/516350; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33644821331