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Novel Tmem67 Mutations and Genotype-Phenotype Correlates in Meckelin-Related Ciliopathies
AuthID
P-009-114
P-009-114
225
Author(s)
Iannicelli, M
·Brancati, F
·Mougou Zerelli, S
·Mazzotta, A
·Thomas, S
·Elkhartoufi, N
·Travaglini, L
·Gomes, C
·Ardissino, GL
·Bertini, E
·[+155]·
[+50]·
Brooks, DG
·Goldstein, A
·Caldwell, J
·Finsecke, E
·Maria, BL
·Holden, K
·Cruse, RP
·Swoboda, KJ
·Viskochil, D
1
Group Author(s)
Int JSRD Study Grp
Tipo de Documento
Article
Year published
2010
Publicado
in HUMAN MUTATION, ISSN: 1059-7794
Volume: 31, Número: 5, Páginas: E1319-E1331 (13)
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ISSN: 1059-7794
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| Name Order | Nome | Name Order | Nome | Name Order | Nome | ||
|---|---|---|---|---|---|---|---|
| 1 | Iannicelli, M; | 2 | Brancati, F; | 3 | Mougou Zerelli, S; | ||
| 4 | Mazzotta, A; | 5 | Thomas, S; | 6 | Elkhartoufi, N; | ||
| 7 | Travaglini, L; | 8 | Gomes, C; | 9 | Ardissino, GL; | ||
| 10 | Bertini, E; | 11 | Boltshauser, E; | 12 | Castorina, P; | ||
| 13 | D'Arrigo, S; | 14 | Fischetto, R; | 15 | Leroy, B; | ||
| 16 | Loget, P; | 17 | Bonniere, M; | 18 | Starck, L; | ||
| 19 | Tantau, J; | 20 | Gentilin, B; | 21 | Majore, S; | ||
| 22 | Swistun, D; | 23 | Flori, E; | 24 | Lalatta, F; | ||
| 25 | Pantaleoni, C; | 26 | Penzien, J; | 27 | Grammatico, P; | ||
| 28 | Dallapiccola, B; | 29 | Gleeson, JG; | 30 | Attie Bitach, T; | ||
| 31 | Valente, EM; | 32 | Ali Pacha, L; | 33 | Tazir, M; | ||
| 34 | Zankl, A; | 35 | Leventer, R; | 36 | Grattan Smith, P; | ||
| 37 | Janecke, A; | 38 | D'Hooghe, M; | 39 | Sznajer, Y; | ||
| 40 | Van Coster, R; | 41 | Demerleir, L; | 42 | Dias, K; | ||
| 43 | Moco, C; | 44 | Moreira, A; | 45 | Ae Kim, C; | ||
| 46 | Maegawa, G; | 47 | Loncarevic, D; | 48 | Mejaski Bosnjak, V; | ||
| 49 | Petkovic, D; | 50 | Abdel Salam, GMH; | 51 | Abdel Aleem, A; | ||
| 52 | Zaki, MS; | 53 | Marti, I; | 54 | Quijano Roy, S; | ||
| 55 | Sigaudy, S; | 56 | De Lonlay, P; | 57 | Romano, S; | ||
| 58 | Verloes, A; | 59 | Touraine, R; | 60 | Koenig, M; | ||
| 61 | Lagier Tourenne, C; | 62 | Messer, J; | 63 | Collignon, P; | ||
| 64 | Wolf, N; | 65 | Philippi, H; | 66 | Lemke, J; | ||
| 67 | Dacou Voutetakis, C; | 68 | Kitsiou Tzeli, S; | 69 | Pons, R; | ||
| 70 | Sztriha, L; | 71 | Halldorsson, S; | 72 | Johannsdottir, J; | ||
| 73 | Ludvigsson, P; | 74 | Phadke, SR; | 75 | Udani, V; | ||
| 76 | Stuart, B; | 77 | Magee, A; | 78 | Lev, D; | ||
| 79 | Michelson, M; | 80 | Ben Zeev, B; | 81 | Di Giacomo, M; | ||
| 82 | Gentile, M; | 83 | Guanti, G; | 84 | D'Addato, O; | ||
| 85 | Papadia, F; | 86 | Spano, M; | 87 | Bernardi, F; | ||
| 88 | Seri, M; | 89 | Benedicenti, F; | 90 | Stanzial, F; | ||
| 91 | Borgatti, R; | 92 | Accorsi, P; | 93 | Battaglia, S; | ||
| 94 | Fazzi, E; | 95 | Giordano, L; | 96 | Izzi, C; | ||
| 97 | Pinelli, L; | 98 | Boccone, L; | 99 | Guanciali, P; | ||
| 100 | Romoli, R; | 101 | Bigoni, S; | 102 | Ferlini, A; | ||
| 103 | Andreucci, E; | 104 | Donati, MA; | 105 | Genuardi, M; | ||
| 106 | Caridi, G; | 107 | Divizia, MT; | 108 | Faravelli, F; | ||
| 109 | Ghiggeri, G; | 110 | Pessagno, A; | 111 | Amorini, M; | ||
| 112 | Briguglio, M; | 113 | Briuglia, S; | 114 | Rigoli, L; | ||
| 115 | Salpietro, C; | 116 | Tortorella, G; | 117 | Adami, A; | ||
| 118 | Marra, G; | 119 | Riva, D; | 120 | Scelsa, B; | ||
| 121 | Spaccini, L; | 122 | Uziel, G; | 123 | Coppola, G; | ||
| 124 | Del Giudice, E; | 125 | Vitiello, G; | 126 | Laverda, AM; | ||
| 127 | Ludwig, K; | 128 | Permunian, A; | 129 | Suppiej, A; | ||
| 130 | Macaluso, C; | 131 | Signorini, S; | 132 | Uggetti, C; | ||
| 133 | Battini, R; | 134 | Di Giacomo, M; | 135 | Priolo, M; | ||
| 136 | Cilio, MR; | 137 | D'Amico, A; | 138 | Di Sabato, ML; | ||
| 139 | Emma, F; | 140 | Leuzzi, V; | 141 | Parisi, P; | ||
| 142 | Stringini, G; | 143 | Zanni, G; | 144 | Pollazzon, M; | ||
| 145 | Renieri, A; | 146 | Vascotto, M; | 147 | Silengo, M; | ||
| 148 | De Vescovi, R; | 149 | Greco, D; | 150 | Romano, C; | ||
| 151 | Cazzagon, M; | 152 | Simonati, A; | 153 | Al Tawari, AA; | ||
| 154 | Bastaki, L; | 155 | Megarbane, A; | 156 | Matuleviciene, A; | ||
| 157 | Sabolic Avramovska, V; | 158 | Said, E; | 159 | De Jong, MM; | ||
| 160 | Prescott, T; | 161 | Stromme, P; | 162 | Von Der Lippe, C; | ||
| 163 | Koul, R; | 164 | Rajab, A; | 165 | Azam, M; | ||
| 166 | Barbot, C ; | 167 | Jocic Jakubi, B; | 168 | Gener Querol, B; | ||
| 169 | Martorell Sampol, L; | 170 | Rodriguez, B; | 171 | Pascual Castroviejo, I; | ||
| 172 | Strozzi, S; | 173 | Fluss, J; | 174 | Teber M, S; | ||
| 175 | Topcu, ; | 176 | Anlar, B; | 177 | Comu, S; | ||
| 178 | Karaca, E; | 179 | Kayserili, H; | 180 | Yuksel, A; | ||
| 181 | Akgul, M; | 182 | Akcakus, M; | 183 | Al Gazali, L; | ||
| 184 | Nicholl, D; | 185 | Woods, CG; | 186 | Bennett, C; | ||
| 187 | Hurst, J; | 188 | Sheridan, E; | 189 | Barnicoat, A; | ||
| 190 | Carr, L; | 191 | Hennekam, R; | 192 | Lees, M; | ||
| 193 | McKay, F; | 194 | Yates, L; | 195 | Blair, E; | ||
| 196 | Bernes, S; | 197 | Sanchez, H; | 198 | Clark, AE; | ||
| 199 | DeMarco, E; | 200 | Donahue, C; | 201 | Sherr, E; | ||
| 202 | Hahn, J; | 203 | Sanger, TD; | 204 | Gallager, TE; | ||
| 205 | Dobyns, WB; | 206 | Daugherty, C; | 207 | Krishnamoorthy, KS; | ||
| 208 | Sarco, D; | 209 | Walsh, CA; | 210 | McKanna, T; | ||
| 211 | Milisa, J; | 212 | Chung, WK; | 213 | De Vivo, DC; | ||
| 214 | Raynes, H; | 215 | Schubert, R; | 216 | Seward, A; | ||
| 217 | Brooks, DG; | 218 | Goldstein, A; | 219 | Caldwell, J; | ||
| 220 | Finsecke, E; | 221 | Maria, BL; | 222 | Holden, K; | ||
| 223 | Cruse, RP; | 224 | Swoboda, KJ; | 225 | Viskochil, D; |
