المؤلفون: Valente, E M, Brancat, F, Silhavy, J L, Castori, M, March, S E, Barrano, G, Bertini, E, Boltshauser, E, Zaki, M S, Abdel-Aleem, A, Abdel-Salam, GMH, Bellacchlo, E, Battini, R, Cruse, R P, Dobyns, W B, Krishnamoorthy, K S, Lagier-Tourenne, C, Magee, A, Pascual-Castroviejo, I, Salpietro, C D, Sarco, D, Dallapiccola, B, Gleeson, J G

المصدر: Annals of Neurology. 59(3)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4jp5t97nTest

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

العلاقة: 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/11392/533191Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-47149084412; http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC2752690&blobtype=pdfTest

الإتاحة: https://doi.org/10.1111/j.1399-0004.2008.01047.xTest
http://hdl.handle.net/11392/533191Test
http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC2752690&blobtype=pdfTest

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

العلاقة: 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/11365/960289Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84884592278

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

المؤلفون: Pascual-Castroviejo, I., Hernández-Moneo, J.L., Pascual-Pascual, S.I., Viaño, J., Gutiérrez-Molina, M., Velazquez-Fragua, R., Quiñones Tapia, D., Morales Bastos, C.

المصدر: Neurología (English Edition) ; volume 28, issue 9, page 550-557 ; ISSN 2173-5808

الإتاحة: https://doi.org/10.1016/j.nrleng.2013.10.013Test
https://api.elsevier.com/content/article/PII:S217358081300151X?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S217358081300151X?httpAccept=text/xmlTest

المؤلفون: Pascual-Castroviejo, I., Hernández-Moneo, J.L., Pascual-Pascual, S.I., Viaño, J., Gutiérrez-Molina, M., Velazquez-Fragua, R., Quiñones Tapia, D., Morales Bastos, C.

المصدر: Neurología ; volume 28, issue 9, page 550-557 ; ISSN 0213-4853

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1016/j.nrl.2012.11.002Test
https://api.elsevier.com/content/article/PII:S0213485312002873?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0213485312002873?httpAccept=text/xmlTest

المؤلفون: Pascual-Castroviejo, I., Hernández-Moneo, J.L., Gutiérrez-Molina, M.L., Viaño, J., Pascual-Pascual, S.I., Velazquez-Fragua, R., Morales, C., Quiñones, D.

المصدر: Neurología (English Edition) ; volume 27, issue 8, page 472-480 ; ISSN 2173-5808

الإتاحة: https://doi.org/10.1016/j.nrleng.2011.10.009Test
https://api.elsevier.com/content/article/PII:S2173580812001708?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S2173580812001708?httpAccept=text/xmlTest

المؤلفون: Pascual-Castroviejo, I., Hernández-Moneo, J.L., Gutiérrez-Molina, M.L., Viaño, J., Pascual-Pascual, S.I., Velazquez-Fragua, R., Morales, C., Quiñones, D.

المصدر: Neurología ; volume 27, issue 8, page 472-480 ; ISSN 0213-4853

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1016/j.nrl.2011.10.012Test
https://api.elsevier.com/content/article/PII:S0213485311004439?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0213485311004439?httpAccept=text/xmlTest

المؤلفون: Pascual-Castroviejo, I., Pascual-Pascual, S.I., Velásquez-Fragua, R., Viaño López, J.

المصدر: Neurología (English Edition) ; volume 27, issue 6, page 336-342 ; ISSN 2173-5808

الإتاحة: https://doi.org/10.1016/j.nrleng.2012.07.013Test
https://api.elsevier.com/content/article/PII:S2173580812001186?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S2173580812001186?httpAccept=text/xmlTest

المؤلفون: Pascual-Castroviejo, I., Pascual-Pascual, S.I., Velazquez-Fragua, R., Viaño, J., Quiñones, D.

المصدر: Neurología (English Edition) ; volume 27, issue 8, page 491-499 ; ISSN 2173-5808

الإتاحة: https://doi.org/10.1016/j.nrleng.2011.06.003Test
https://api.elsevier.com/content/article/PII:S2173580812001563?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S2173580812001563?httpAccept=text/xmlTest

المؤلفون: Pascual-Castroviejo, I., Pascual-Pascual, S.I., Velazquez-Fragua, R., Viaño Lopez, J.

المصدر: Neurología ; volume 27, issue 6, page 336-342 ; ISSN 0213-4853

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1016/j.nrl.2011.12.017Test
https://api.elsevier.com/content/article/PII:S0213485312000187?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0213485312000187?httpAccept=text/xmlTest