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Rpgrip1L Mutations Are Mainly Associated with the Cerebello-Renal Phenotype of Joubert Syndrome-Related Disorders
AuthID
P-009-116
P-009-116
128
Author(s)
Brancati, F
·Travaglini, L
·Zablocka, D
·Boltshauser, E
·Accorsi, P
·Montagna, G
·Silhavy, JL
·Barrano, G
·Bertini, E
·Emma, F
·[+71]·
[+37]·
Finsecke, E
·Maria, BL
·Holden, K
·Cruse, RP
·Swoboda, KJ
·Viskochil, D
·Dallapiccola, B
·Gleeson, JG
·Valente, EM
1
Group Author(s)
Int JSRD Study Grp
Document Type
Article
Year published
2008
Published
in CLINICAL GENETICS, ISSN: 0009-9163
Volume: 74, Issue: 2, Pages: 164-170 (7)
Indexing
Publication Identifiers
Pubmed: 18565097
SCOPUS: 2-s2.0-47149084412
Wos: WOS:000257476200008
Source Identifiers
ISSN: 0009-9163
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| Name Order | Name | Name Order | Name | Name Order | Name | ||
|---|---|---|---|---|---|---|---|
| 1 | Brancati, F; | 2 | Travaglini, L; | 3 | Zablocka, D; | ||
| 4 | Boltshauser, E; | 5 | Accorsi, P; | 6 | Montagna, G; | ||
| 7 | Silhavy, JL; | 8 | Barrano, G; | 9 | Bertini, E; | ||
| 10 | Emma, F; | 11 | Rigoli, L; | 12 | Leventer, R; | ||
| 13 | Grattan Smith, P; | 14 | Janecke, A; | 15 | D'Hooghe, M; | ||
| 16 | Van Coster, R; | 17 | Dias, K; | 18 | Moco, C; | ||
| 19 | Moreira, A; | 20 | Kim, CA; | 21 | Maegawa, G; | ||
| 22 | Abdel Salam, GMH; | 23 | Abdel Aleem, A; | 24 | Zaki, MS; | ||
| 25 | Marti, I; | 26 | Quijano Roy, S; | 27 | de Lonlay, P; | ||
| 28 | Romano, S; | 29 | Verloes, A; | 30 | Touraine, R; | ||
| 31 | Koenig, M; | 32 | Lagier Tourenne, C; | 33 | Messer, J; | ||
| 34 | Philippi, H; | 35 | Tzeli, SK; | 36 | Halldorsson, S; | ||
| 37 | Johannsdottir, J; | 38 | Ludvigsson, P; | 39 | Phadke, SR; | ||
| 40 | Stuart, B; | 41 | Magee, A; | 42 | Lev, D; | ||
| 43 | Michelson, M; | 44 | Ben Zeev, B; | 45 | Fischetto, R; | ||
| 46 | Gentile, M; | 47 | Battaglia, S; | 48 | Giordano, L; | ||
| 49 | Pinelli, L; | 50 | Boccone, L; | 51 | Ruggieri, M; | ||
| 52 | Bigoni, S; | 53 | Ferlini, A; | 54 | Donati, MA; | ||
| 55 | Procopio, E; | 56 | Caridi, G; | 57 | Faravelli, F; | ||
| 58 | Ghiggeri, G; | 59 | Briuglia, S; | 60 | Salpietro, CD; | ||
| 61 | Tortorella, G; | 62 | D'Arrigo, S; | 63 | Pantaleoni, C; | ||
| 64 | Riva, D; | 65 | Uziel, G; | 66 | Laverda, AM; | ||
| 67 | Permunian, A; | 68 | Bova, S; | 69 | Battini, R; | ||
| 70 | Cilio, MR; | 71 | Di Sabato, M; | 72 | Leuzzi, V; | ||
| 73 | Parisi, P; | 74 | Simonati, A; | 75 | Al Tawari, AA; | ||
| 76 | Bastaki, L; | 77 | Ahmad, ; | 78 | de Jong, MM; | ||
| 79 | Koul, R; | 80 | Rajab, A; | 81 | Azam, M; | ||
| 82 | Barbot, C ; | 83 | Rodriguez, B; | 84 | Pascual Castroviejo, I; | ||
| 85 | Kayserili, H; | 86 | Comu, S; | 87 | Akcakus, M; | ||
| 88 | Al Gazali, L; | 89 | Sztriha, L; | 90 | Nicholl, D; | ||
| 91 | Woods, CG; | 92 | Bennett, C; | 93 | Hurst, J; | ||
| 94 | Hennekam, R; | 95 | Lees, M; | 96 | Bernes, S; | ||
| 97 | Sanchez, H; | 98 | Clark, AE; | 99 | DeMarco, E; | ||
| 100 | DeMarco, E; | 101 | Donahue, C; | 102 | Sherr, E; | ||
| 103 | Sanger, TD; | 104 | Gallager, TE; | 105 | Dobyns, WB; | ||
| 106 | Daugherty, C; | 107 | Krishnamoorthy, KS; | 108 | Sarco, D; | ||
| 109 | Walsh, CA; | 110 | McKanna, T; | 111 | Milisa, J; | ||
| 112 | Chung, WK; | 113 | De Vivo, DC; | 114 | Raynes, H; | ||
| 115 | Schubert, R; | 116 | Seward, A; | 117 | Brooks, DG; | ||
| 118 | Goldstein, A; | 119 | Caldwell, J; | 120 | Finsecke, E; | ||
| 121 | Maria, BL; | 122 | Holden, K; | 123 | Cruse, RP; | ||
| 124 | Swoboda, KJ; | 125 | Viskochil, D; | 126 | Dallapiccola, B; | ||
| 127 | Gleeson, JG; | 128 | Valente, EM; |
