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: Travaglini, L, Brancati, F, Silhavy, J, Iannicelli, M, Nickerson, E, Elkhartoufi, N, Scott, E, Spencer, E, Gabriel, S, Thomas, S, Ben Zeev, B, Bertini, E, Boltshauser, E, Chaouch, M, Cilio, Mr, de Jong, Mm, Kayserili, H, Ogur, G, Poretti, A, Signorini, S, Uziel, G, Zaki, Ms, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D’Hooghe, M, Sznajer, Y, Vilain, C, Van Coste, R, Demerleir, L, Dias K, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam, Gmh, 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, 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, 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, A, Belligni, E, Grosso, E, Pieri, I, Silengo, M, Devescovi, R, Greco, D, Romano, C, Cazzagon, M, Simonat, A, Al Tawari, Aa, Bastaki, L, Me´garbane´, 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, Rcm, Wolf, N, Gouider Khouja, N, Kraoua, I, Ceylaner, S, Teber, S, Akgul, M, Anlar, B, Comu, S, Yu¨ksel, 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, Johnson, C, Attié Bitach, T, Gleeson, Jg, Valente, Em, BRIUGLIA, Silvana, SALPIETRO DAMIANO, Carmelo

المساهمون: Travaglini, L, Brancati, F, Silhavy, J, Iannicelli, M, Nickerson, E, Elkhartoufi, N, Scott, E, Spencer, E, Gabriel, S, Thomas, S, Ben Zeev, B, Bertini, E, Boltshauser, E, Chaouch, M, Cilio, Mr, de Jong, Mm, Kayserili, H, Ogur, G, Poretti, A, Signorini, S, Uziel, G, Zaki, M, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D’Hooghe, M, Sznajer, Y, Vilain, C, Van Coste, R, Demerleir, L, Dias K, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam, Gmh, 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, 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: Joubert syndrome, INPP5E, ciliopathies

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23386033; info:eu-repo/semantics/altIdentifier/wos/WOS:000324727200014; volume:21; issue:10; firstpage:1074; lastpage:1078; numberofpages:5; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11570/2667183Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84884592278

الإتاحة: https://doi.org/10.1038/ejhg.2012.305Test
http://hdl.handle.net/11570/2667183Test

المؤلفون: van de Kamp, JM, Betsalel, OT, Mercimek-Mahmutoglu, S, Abulhoul, L, Grunewald, S, Anselm, I, Azzouz, H, Bratkovic, D, Brouwer, A (Annemarie), Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, MA, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, ter Haar, S (S.), Meijers-Heijboer, HE, Hofstede, F, Johnson, D, Kant, SG, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, JA, Monteiro, JP, Munnich, A, Muntau, AC, Nassogne, MC, Osaka, H, Ounap, K, Pinard, JM, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, CE, Schwenger, S, Soares, G, Sznajer, Y

المصدر: van de Kamp , JM , Betsalel , OT , Mercimek-Mahmutoglu , S , Abulhoul , L , Grunewald , S , Anselm , I , Azzouz , H , Bratkovic , D , Brouwer , A , Hamel , B , Kleefstra , T , Yntema , H , Campistol , J , Vilaseca , MA , Cheillan , D , D'Hooghe , M , Diogo , L , Garcia , P , Valongo , C , Fonseca , M , Frints , S , Wilcken , B , ter Haar , S , Meijers-Heijboer , HE , ....

الإتاحة: https://doi.org/10.1136/jmedgenet-2013-101658Test
https://pure.eur.nl/en/publications/0a48a581-5444-4af7-a228-1a5af7e742d4Test
http://hdl.handle.net/1765/66522Test

المؤلفون: Chemaly, N, Kaminska, A, Chiron, C, An, I, Pinard, JM, Gauthier, A, Arbues, AS, Dulac, O, Nabbout, R

المصدر: European Journal of Paediatric Neurology ; volume 17, page S3 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s1090-3798Test(13)70009-6
https://api.elsevier.com/content/article/PII:S1090379813700096?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379813700096?httpAccept=text/plainTest

المؤلفون: Pinard, JM, Joannard, A, Ouvrard-Hernandez, AM

المصدر: Archives de Pédiatrie ; volume 5, issue 10, page 1175 ; ISSN 0929-693X

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s0929-693xTest(99)80032-3
https://api.elsevier.com/content/article/PII:S0929693X99800323?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0929693X99800323?httpAccept=text/plainTest

المؤلفون: Jalin, C, Fohlen, M, Pinard, JM, Tabardel, Y, Plouin, P, Dulac, O, Elhadjam, M, Maestracci, V, Delaland, O

المصدر: Archives de Pédiatrie ; volume 5, issue 10, page 1174 ; ISSN 0929-693X

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s0929-693xTest(99)80028-1
https://api.elsevier.com/content/article/PII:S0929693X99800281?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0929693X99800281?httpAccept=text/plainTest

المؤلفون: Des Portes, V, Pinard, JM, Francis, F, Vinet, MC, Koulakoff, A, Motte, J, Catala, M, Beldjord, C, Chelly, J

المصدر: Archives de Pédiatrie ; volume 5, issue 10, page 1174-1175 ; ISSN 0929-693X

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s0929-693xTest(99)80031-1
https://api.elsevier.com/content/article/PII:S0929693X99800311?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0929693X99800311?httpAccept=text/plainTest

المؤلفون: Ioos, C, Pinard, JM, Héraut-Chéliout, F, Fohlen, M, Jalin, C

المصدر: Neurophysiologie Clinique/Clinical Neurophysiology ; volume 27, issue 2, page 173 ; ISSN 0987-7053

مصطلحات موضوعية: Physiology (medical), Neurology (clinical), Neurology, General Medicine

الإتاحة: https://doi.org/10.1016/s0987-7053Test(97)85735-8
https://api.elsevier.com/content/article/PII:S0987705397857358?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0987705397857358?httpAccept=text/plainTest

المؤلفون: Dulac, O, Delalande, O, Pinard, JM, Jalin, C, Plouin, P, Jambaqué, I, Chiron, C, Cieuta, C

المصدر: Archives de Pédiatrie ; volume 3, issue 4, page 369-377 ; ISSN 0929-693X

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/0929-693xTest(96)84694-x
https://api.elsevier.com/content/article/PII:0929693X9684694X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:0929693X9684694X?httpAccept=text/plainTest

المؤلفون: Fohlen, M, Delalande, O, Pinard, JM, Dulac, O

المصدر: Archives de Pédiatrie ; volume 3, page S359-S360 ; ISSN 0929-693X

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/0929-693xTest(96)86107-0
https://api.elsevier.com/content/article/PII:0929693X96861070?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:0929693X96861070?httpAccept=text/plainTest