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1Academic 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
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
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2Academic 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., Dallapiccola B., Gleeson J. G., Valente E. M., SIMONATI, Alessandro
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.
مصطلحات موضوعية: RPGRIP1L, Joubert Syndrome Related Disorder, molar tooth sign, nephronophthisis
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
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3Academic 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
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/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
الاتاحة: http://hdl.handle.net/11573/227892
https://doi.org/10.1111/j.1399-0004.2008.01047.x
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 -
4Academic 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
مصطلحات موضوعية: Joubert syndrome-related disorder, Molar tooth sign, Nephronophthisi, RPGRIP1L, Adaptor Proteins, Signal Transducing, Adult, Brain Stem, Cerebellum, Child, Preschool, Cohort Studie, DNA Mutational Analysi, Family Health, Female, Genetic Testing, Human, Kidney, Magnetic Resonance Imaging, Male, Phenotype, Syndrome, Mutation, Genetics (clinical), Genetics
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
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5Academic Journal
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, 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, FAZZI, ELISA MARIA
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
الاتاحة: http://hdl.handle.net/11571/106547
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6Academic Journal
المؤلفون: BRANCATI F, BARRANO G, SILHAVY JL, MARSH SE, TRAVAGLINI L, BIELAS SL, 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, ROMANO S, SHERR EH, SIGNORINI S, STROMME P, STUART B, SZTRIHA L, VISKOCHIL DH, YUKSEL A, DALLAPICCOLA B, THE INTERNATIONAL JSRD STUDY GROUP, GLEESON JG, AMORINI, MARIA, RIGOLI, Luciana Concetta, SALPIETRO DAMIANO, Carmelo, VALENTE, Enza Maria
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 syndrome–related 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
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7Academic Journal
المؤلفون: Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel Aleem A, Abdel Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier Tourenne C, Magee A, Pascual Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG, SIMONATI, Alessandro
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
مصطلحات موضوعية: Joubert syndrome, Joubert Syndrome Related Disorder, AHI1 gene, mutation
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