2008 Barcelona - European Society of Human Genetics

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Author Index 0 Şahin, K.: P03.16 Sahin, M.: P01.368 Sahlén, S.: P02.158 Sahraiyan, M.: P06.191 Saino, S.: P05.001 Sajadi, S.: P04.145 Sajedifar, M.: P01.012, P01.290, P07.074 Šajina Stritar, B.: P03.71 Sakalauskas, R.: P06.014 Saketkhoo, S.: P06.305 Sakizli, M.: P04.206 Sakurai, A.: P04.165, P09.08 Sala, E.: P04.128 Sala, N.: P06.281, P07.069 Salachas, F.: P06.018 Salamanca, F.: P05.206, P07.032 Salamini, F.: P06.114 Salari, S.: P04.203 Salas, J.: P07.085 Salas-Alanis, J. C.: P01.244 Salazar, J.: P04.178 Salazar-Canul, M.: P06.304 Salcedo, I.: C11.3 Salden, I.: P09.73 Saleh, M. T.: EP06.1 Salerni, G.: P04.161 Salfi, N.: P04.174 Salgado, M.: P08.06 Salgueiro, A. B.: P01.121 Salido, M.: P01.106 Salinas, I.: P04.207 Salinas, M.: EP10.21, P04.018 Salobir, B.: P06.259 Salomon, R.: P05.132 Salsabili, N.: P02.240 Saltanatpouri, Z.: P02.206 Saltykova, I.: P06.028, P07.117 Salumets, A.: P02.237, P06.095 Salvatoni, A.: P05.027 Salvatore, M.: P04.153 Salvatori, S.: P10.19 Salvi, A.: P05.021 Salvi, E.: c13.6, P07.112 Salvi, R.: P01.021 Salviati, A.: P06.193 Salviati, L.: P01.139, P01.309, P02.077, P06.302 Salway, F.: P09.55 Samaha, R. R.: P08.59 Samavat, A.: P01.023 Samli, H.: P05.049, P05.061, P07.038 Samoila, C.: P04.080 Sampalo, A.: P01.328, P05.179 Sampieri, K.: C04.4, C10.2, P02.020 San Miguel, J. F.: P06.074 San Nicolás, H.: P05.189 Sanati, M.: P01.045, P01.161, P01.235, P01.345, P06.192, P07.063 Sancesario, G.: P06.017 Sanchez Hombre, M.: P03.52 Sánchez Ollé, G.: P01.063 Sánchez, A.: P02.021, P02.104, P02.155, P03.11, P03.42, P03.53, P03.63, P08.26 Sánchez, B. E.: P07.091 Sánchez, E.: P06.279 Sánchez, J.: P05.097 Sanchez, M.: P05.044 Sanchez, S.: P01.335 Sanchez-Beato, M.: P04.103 Sánchez-Castellanos, M. E.: P01.244 Sánchez-Corona, J.: P01.351 Sánchez-Mejías, A.: P05.088, P06.130 Sanchez-Olle, G.: P10.12 Sanchez-Roman, J.: P06.279 Sánchez-Sánchez, F.: P05.056, P05.057 Sand, J. C.: P01.229, P01.230 Sandford, R.: C06.1 Sandling, J.: C08.1 Sandri, M.: P06.102 Sangeetha, R.: P02.119, P04.050, P07.026 Sangiuolo, F.: P06.302 Sangüesa, R.: P06.147 Sani, G.: P09.53 Sanjari, A.: P01.019 Sanjuán, J.: P06.263 Sankaran, V. G.: C08.4 Sanlaville, D.: C01.2, P01.362 Sanlioglu, A. D.: P01.013 Sanna, S.: c08.3, C08.4, P06.140 Sano, K.: P04.165 Sanoudou, D.: P06.321 Sans, A.: P01.094 Sansanelli, S.: P06.240 Sansovic, I.: P01.276, P02.015 Santamaria, A.: P05.198 Santamaria, C.: P06.074 Santarelli, R.: P07.013 Santava, A.: P06.290 Santavy, J.: P02.239, P03.17, P06.290 Santhanam, R.: P08.71 Santin, I.: P06.292, P06.294 Santome Collazo, J. L.: P02.066 Santorelli, F. M.: P05.184, P05.185 Santoro, C.: P05.162 Santos, C.: P01.295, P09.41 Santos, F.: P02.060, P03.68, P05.183 Santos, H. G.: P01.121, P01.132, P01.266, P05.042 Santos, J.: EP08.3, EP08.4, P06.223 Santos, M. R.: P07.128 Santos, M.: P01.092, P02.007, P02.093, P02.120, P04.042, P05.085 Santos, R.: P01.266, P02.201 Santos, S.: P04.044, P04.045 Santos, V.: P04.049 Santos-Briz Terrón, A.: P05.209 Santucci, S.: P03.67 Santure, M.: P09.06 Sanz, D.: P04.019, P04.057 Sanz, J.: EP10.03, EPL3.3, P04.022, P04.040 Sanz, P.: P09.29 Saraeva, R.: P05.058, P06.004, P06.134 Saraiva, J.: P01.129 Saraiva-Pereira, M. L.: P05.174 Sarangi, S.: EP05.1, EP10.16, EPL2.4, EPL5.4 Sarasola, E.: P06.109 Sarasquete, M. E.: P06.074 Sarbajna, S.: S08.2 Sarda, P.: P01.171, P02.141, P05.094 Sardi, I.: P04.204 Sardinha, L.: P06.214 Saremi, A.: P03.48, P04.066 Saremi, M. A.: P07.074 Sari, I.: P05.050 Saric, M.: P07.066 Sarikaya, S.: P04.126 Sarisoy, S.: P02.139, P02.139 Sarkisian, T. F.: P01.287 Sarkozy, A.: P01.183 Sarnavka, V.: P01.355 Sarret, C.: P05.199 Sartori, A.: P04.124, P08.67 Sartori, S.: P01.309 Sas, I.: P01.124 Sasikala, K.: P02.119, P04.050, P07.026, P07.040 Sasvari-Szekely, M.: P06.073, P06.322, P06.322 Şatiroğlu, H.: P04.141 Satoh, T.: P05.074 Satta, S.: C08.4 Saugier-Veber, P.: P05.151 Saura, C.: EP10.03 Saus, E.: P02.125, P06.001, P06.121, P06.177 Savarirayan, R.: EP04.1, P01.153 Savescu, D.: P06.123 Savettieri, G.: P05.152 Savic-Pavicevic, D.: P07.066 Savilahti, E.: P05.111 Savli, H.: P06.308 Savov, A.: P07.098 Savran-Oguz, F.: P06.203 Saxena, R.: P01.014, P04.102, P04.107, P04.117, PL2.2 Sayagues, J. M.: P04.177 Sayedhassani, M.: P04.030 Sayers, R.: EP01.07 Sazawal, S.: P04.102, P04.107, P04.117 Sazhenova, E. A.: P05.098, P06.174 Sbii, L.: P07.024 Sbraccia, P.: P01.313, P10.19 Scacchi, R.: P07.080 Scaloni, A.: P08.36 Scambler, P.: P02.031 Scapoli, C.: P06.010 Scarano, G.: P01.118
Author Index 0 Scarcella, M.: P05.018 Scerri, C.: P01.020, P05.024, P07.124, P07.039 Schache, M.: P06.199 Schackert, H.: P04.023 Schackwitz, W.: P01.183 Schadt, E. E.: P08.12 Schaeffer, L.: P06.102 Schagina, O. A.: P01.211, P01.226, P01.231, P01.234, P01.356, P06.103, P06.122, P06.138 Schalkwijk, J.: P06.244 Schavlovsky, M. M.: P01.044 Scheffer, H.: P05.012, P06.196, P06.205, P09.73 Scheffer, I. E.: PL2.4 Schegolkova, J. V.: P06.235 Scheler, O.: P08.51 Schellekens, K.: P05.100 Scherbacova, M. Y.: P06.112 Scherer, G.: P01.123, P02.238 Scherer, S. W.: C13.3 Scherthan, H.: P02.238 Scheynius, A.: P06.140 Schijvenaars, M. M. V. A.: P06.205 Schimmel, H.: P09.61 Schindler, D.: P04.144, P05.046, P05.121, PL2.1 Schinkel, S.: P06.200 Schinzel, A.: P01.304, P01.336 Schlecht, H. B.: P03.09 Schlessinger, D.: C08.3, C08.4 Schlüter, A.: P01.076 Schmedding, E.: P05.099 Schmidt, T.: P06.216 Schmidtke, J.: P05.120, P06.090, P09.19, P09.31, P09.35 Schmitt, S.: P05.166 Schmitt-Mechelke, T.: C06.1 Schneider, A.: P02.141 Schneider, R.: C12.3, P05.150 Schobers, G.: P08.45 Schock, G.: P04.129 Schoenmakers, S.: P08.30 Sch<strong>of</strong>ield, P. R.: EPL2.2 Schoots, J.: P05.012 Schosser, A.: P06.041 Schot, R.: P02.033, P05.100 Schott, J.: P05.166 Schouten, J.: P06.184 Schrander-Stumpel, C. T. R. M.: P06.131 Schreiber, S.: P06.139 Schreyer, B.: P08.82 Schrock, E.: P01.323 Schroer, R.: P02.061 Schulmann, K.: P04.023 Schurgers, L.: C06.5, P05.164 Schürmeier-Horst, F.: P06.092 Schutt, B.: P02.061 Schütz, F.: P02.200 Schwartz, C. E.: C01.2, C07.6, P02.061 Schwartz, M.: P06.184 Schwarz, M.: P09.20 Schwarzbraun, T.: P01.365, P05.016, P05.178 Schweiger, B.: C11.6 Schweiger, S.: C12.3, P05.150 Schweyer, S.: P04.154 Sciacco, M.: P01.191 Scioletti, A.: P02.233 Scornaienchi, V.: P05.152, P06.013, P06.226 Scotcher, D.: EP01.05, EP01.07 Scotet, V.: P01.025, P06.061, P07.064 Scott, L. J.: PL2.2 Scouras, Z. G.: P03.58 Scozzari, R.: P07.134 Scvortova, E. V.: P05.133 Seabright, E.: P01.325 Sebesta, I.: P05.093 Sebold, C. D.: c01.4, P02.070, P02.071, P09.03 Seclaman, E.: P04.080 Seco, J.: P07.006 Sedano, L.: P06.183 Sedej, M.: P05.201 Sedighi Gila, M. A.: P01.283 Sedlacek, Z.: P01.089, P04.155 Sedlmayr, P.: P03.22 Seelow, D.: PL2.6 Seeman, P.: P05.073, P07.105 Seganti, G.: P01.126 Segers, K.: P01.035 Segura Huerta, Á.: P04.034 Segura, Á.: P04.051 Sehrt, D.: P06.216 Seia, M.: P01.038, P05.001 Seijo, M.: P05.083 Seirati, F.: P04.066 Seitova, G. N.: P06.113 Sekijima, Y.: P09.08 Selcuklu, D.: P08.52 Selenti, N.: P02.147 Selezneva, L.: P06.219 Selicorni, A.: P01.118, P01.183 Selkov, S.: P07.047 Seller, A.: P01.311 Sellitto, D.: P07.134 Selvasekarapandian, S.: P07.040 Semenov, N. V.: P06.137, P06.291 Semenova, O. N.: P06.236 Semple, R. K.: PL2.1 Semrud-Clikeman, M.: C01.4 Sen Turk, N.: P01.292 Sénat, M.: P03.29 Şendroiu, A.: P07.131 Şendroiu, I.: P07.131 Seneca, S.: P05.099, P05.130 Sénès, F. M.: C11.4 Sensi, A.: P09.53 Sentija, K.: P03.50 Seo, E.: P02.135 Sequeiros, J.: EP08.7, EP12.2, EW2.1, P01.295, P05.174, P07.090, P09.16 Sequeiros, J.: P09.35 Serafimoska, Z.: P04.014 Serafinceanu, C.: P01.216 Serafini, D.: P05.014 Serafini, E.: C06.6, P01.334, P05.091 Seraj, B.: P05.005, P05.110 Serapinas, D.: P06.014 Serban, M.: P02.059, P06.123, P07.107 Sercan, Z.: P04.206 Serebrinsky, G. P.: P01.056 Serefoglou, Z.: P04.175 Sereikiene, R.: P09.72 Serés, A.: P02.013 Sergeant, J. A.: P06.208 Seri, M.: EP14.16, P01.138 Serio, A.: P01.334 Sermet, I.: P01.029 Sermon, K.: C09.5 Sermyagina, I. G.: P05.196 Sermyagina, I. S.: P01.360 Serra Arenas, E.: P01.196 Serra, C.: P02.002, P06.063 Serra, E.: C15.2 Serra-Juhé, C.: EP10.13 Serrano, C.: P05.189 Serre, V.: C03.3 Servidei, S.: P01.313 Sesar, A.: P01.242, P05.083 Sesboüé, R.: P04.156 Sestu, N.: C08.3 Setterquist, R.: P08.59 Sever, T.: P06.203, P07.133 Severin, E.: P01.209, P01.364 Sevin, A.: P07.139 Sevinc, D.: P06.065, P07.046 SeydHasani, M.: P01.102 Seyed Hassani, S. M.: P02.240 Seyedhassani, S.: P01.042 Seyedi, O.: P04.148 Sezer, O.: P02.098, P03.73 Sezer, Ö.: P03.74 Sfar, M.: P05.114 Sfeir, R.: P05.036 Sgaramella, V.: P06.114 Shabalov, N.: P06.081 Shaf, M.: P01.345 Shafaghati, Y.: P01.225, P03.48 Shafeghati, Y.: P01.060, P01.261, P02.176 Shafieiyeh, E.: P01.006 Shagin, D.: P05.215 Shagina, I.: P05.215 Shah, A. B.: P08.71 Shahab Movahed, Z.: P01.012 Shahidi, G.: P05.154, P05.155, P05.156 Shahkarami, S.: P06.120 Shahrabi, M.: P05.005, P05.048, P05.110 Shahsavani, R.: P04.132 Shahsuvaryan, G. R.: P01.287 Shahzadi, A.: P06.314 Shalev, H.: C03.1 Shalev, S. A.: P09.46
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Volume 16 Supplement 2 May 2008 www
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Committees - Board - Organisation E
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Plenary Lectures ESHG PLENARY LECTU
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Plenary Lectures 6 Medical Genetics
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Concurrent Symposia ESHG CONCURRENT
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Concurrent Symposia s04.1 microRNA
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Concurrent Symposia 0 use of positi
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Concurrent Symposia s10.2 Non-invas
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Concurrent Symposia s13.1 Dysregula
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Concurrent Sessions ESHG CONCURRENT
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Concurrent Sessions receptor than t
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Concurrent Sessions an autosomal re
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Concurrent Sessions reporting, and
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Concurrent Sessions c06.3 clinical
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Concurrent Sessions c07.5 VLDLR (ve
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Concurrent Sessions 317,503 single
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Concurrent Sessions MYCN , E2F3 and
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Concurrent Sessions limb or thoraci
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Concurrent Sessions APC, BRCA1 and
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Concurrent Sessions identified 215
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Clinical genetics ESHG POSTERS P01.
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Clinical genetics In Cyprus, the mu
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Clinical genetics gene . Most of th
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Clinical genetics are indeed more d
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Clinical genetics P01.037 Validatin
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Clinical genetics 17 PKU patients f
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Clinical genetics L185R missense mu
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Clinical genetics P01.064 isolation
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Clinical genetics leles- is in acco
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Clinical genetics Sapienza” Unive
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Clinical genetics P01.090 Fragile X
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Clinical genetics P01.099 Deletion
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Clinical genetics other CNPs, the 1
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Clinical genetics FRAXA is the most
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Clinical genetics and PT 19 cm. Nec
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Clinical genetics P01.133 White mat
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Clinical genetics curved radii, uln
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Clinical genetics ered at the 33 rd
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Clinical genetics P01.160 character
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Clinical genetics P01.169 A variant
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Clinical genetics matological anoma
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Clinical genetics sition was identi
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Clinical genetics women ranges by p
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Clinical genetics MD2I or MDC1C sho
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Clinical genetics P01.215 the ctG r
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Clinical genetics pansion . Longer
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Clinical genetics frequency of this
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Clinical genetics mana, CUCS, Unive
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Clinical genetics P01.253 The first
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Clinical genetics consistent findin
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Clinical genetics P01.270 Genetic s
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Clinical genetics P01.279 Dilated c
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Clinical genetics objectives of our
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Clinical genetics P01.298 Hyperphos
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Clinical genetics P01.307 maternal
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Clinical genetics CM in monozygotic
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Clinical genetics P01.325 mowat-Wil
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Clinical genetics P01.334 Identific
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Clinical genetics birth defects is
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Clinical genetics The cause of this
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Clinical genetics were assumed to b
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Cytogenetics P01.369 three novel mu
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Cytogenetics P02.008 Reconfirmation
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Cytogenetics mosomal rearrangement
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Cytogenetics otide-based array plat
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Cytogenetics rangements ranged betw
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Cytogenetics 593 kb microdeletion a
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Cytogenetics We herewith report two
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Cytogenetics cise etiological diagn
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Cytogenetics deleted region contain
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Cytogenetics P02.078 mental Retarda
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Cytogenetics present on the right s
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Cytogenetics P02.096 Delineation of
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Cytogenetics P02.106 Aneuploidy of
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Cytogenetics biologic (cytogenetic)
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Cytogenetics - 60 .0) per 100 cells
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Cytogenetics netic map of deleted r
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Cytogenetics phic at delivery . Min
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Cytogenetics (according to question
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Cytogenetics P02.160 characterizati
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Cytogenetics DISCUSSION: In this st
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Cytogenetics from peripheral blood
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Cytogenetics did not influence upon
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Cytogenetics sented with ambiguous
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Cytogenetics normalities, cytogenet
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Cytogenetics P02.215 cytogenetic an
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Cytogenetics matozoa from carriers
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Cytogenetics of spermatogenesis in
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Prenental diagnostics Genotype Infe
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Prenental diagnostics T21 samples s
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Prenental diagnostics be withdrawn
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Prenental diagnostics The Consortiu
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Prenental diagnostics Here we descr
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Prenental diagnostics service deliv
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Prenental diagnostics cal Universit
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Prenental diagnostics nuchal transl
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Prenental diagnostics etal anomalie
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Cancer genetics forms . The typical
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Cancer genetics P04.012 A novel PtE
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Cancer genetics P04.021 comparative
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Cancer genetics P04.029 characteris
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Cancer genetics mutations detected
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Cancer genetics deleterious mutatio
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Cancer genetics Research Centre, Mo
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Cancer genetics P04.064 Dissection
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Cancer genetics P04.072 Acute promy
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Cancer genetics P04.081 Discordance
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Cancer genetics ity of the malignan
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Cancer genetics Method: mRNA level
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Cancer genetics preparations were o
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Cancer genetics ries.The identifica
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Cancer genetics P04.127 FGFR3 mutat
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Cancer genetics Our experience show
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Cancer genetics way consists of thr
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Cancer genetics and/or prognostic m
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Cancer genetics P04.162 HER-2/neu A
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Cancer genetics controls, by hetero
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Cancer genetics P04.179 molecular g
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Cancer genetics there are no change
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Cancer genetics P04.197 mutation in
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Molecular and biochemical basis of
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Genetic analysis, linkage, and asso
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Normal variation, population geneti
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Genomics, technology, bioinformatic
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Genetic counselling, education, gen
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Therapy for genetic disease 0 proce
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Therapy for genetic disease The die
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Therapy for genetic disease Science
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Therapy for genetic disease P10.26
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EMPAG Plenary Lectures and perceive
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EMPAG Plenary Lectures 0 mutation i
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EMPAG Plenary Lectures EPL5.2 the m
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EMPAG Workshops Methods The matrix
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EMPAG Posters their own home . It e
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EMPAG Posters with resultant specia
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EMPAG Posters 0 the family, relativ
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EMPAG Posters ties raised by IBMPFD
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EMPAG Posters ics, Nicosia, Cyprus,
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EMPAG Posters In collaboration with
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Page 471 and 472: Author Index Al-Owain, M.: P06.160
Page 473 and 474: Author Index 0 Baka, M.: P04.082 Ba
Page 475 and 476: Author Index Berwouts, S.: P09.20,
Page 477 and 478: Author Index P07.117 Buil, A.: P06.
Page 479 and 480: Author Index Cho, J.: P04.192, P08.
Page 481 and 482: Author Index Damy, T.: P01.057 Damy
Page 483 and 484: Author Index 0 Dror, A.: P05.074 Dr
Page 485 and 486: Author Index Fernandez-Real, J.: P0
Page 487 and 488: Author Index P06.310 Gavriliuc, A.
Page 489 and 490: Author Index Grinberg, Y. I.: P01.0
Page 491 and 492: Author Index Hood, L.: PL4.1 Hoogeb
Page 493 and 494: Author Index 0 P02.240, P09.63 Kala
Page 495 and 496: Author Index Kongstad, O.: P09.39 K
Page 497 and 498: Author Index Lee, C.: C13.3 Lee, D.
Page 499 and 500: Author Index Mahjoubi, F.: P02.045,
Page 501 and 502: Author Index P04.196 Meindl, A.: c0
Page 503 and 504: Author Index 00 Mottaghi, L.: P01.0
Page 505 and 506: Author Index 0 Oh, T. Y.: P01.084 O
Page 507 and 508: Author Index 0 Peñaloza, R.: P05.2
Page 509 and 510: Author Index 0 Proverbio, M.: P05.0
Page 511: Author Index 0 Rogers, M.: EP14.18
Page 515 and 516: Author Index P06.179 Sobrino, B.: P
Page 517 and 518: Author Index Taschner, P. E. M.: P0
Page 519 and 520: Author Index Urreizti, R.: P01.050,
Page 521 and 522: Author Index Voegele, C.: P04.121 V
Page 523 and 524: Author Index 0 P04.095, P04.106 Zem
Page 525 and 526: Keyword Index AMACR gene: P04.182 a
Page 527 and 528: Keyword Index cardiac: S04.1 Cardio
Page 529 and 530: Keyword Index Crohn: P07.022 Crohn
Page 531 and 532: Keyword Index evolution: P02.112, P
Page 533 and 534: Keyword Index 0 haemoglobinopathies
Page 535 and 536: Keyword Index KCNJ11: P05.026 KCNQ1
Page 537 and 538: Keyword Index MLH1: P04.010, P04.02
Page 539 and 540: Keyword Index osteochondrodysplasia
Page 541 and 542: Keyword Index PXE-like syndrome: P0
Page 543 and 544: Keyword Index 0 sperm: P02.205 sper
Page 545: Keyword Index venous thrombosis: P0
show all

2008 Barcelona - European Society of Human Genetics

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