2008 Barcelona - European Society of Human Genetics

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Author Index Boraska, V.: P06.295, P07.123 Bordignon, M.: P02.077, P06.302 Bordo, D.: P05.084 Borel, C.: C05.5, c13.5, P05.123 Borg, Å.: P04.048 Borg, J.: P01.020, P05.024, P07.039 Borgatti, R.: C01.1 Borinskaya, S. A.: P07.044 Borkowski, A.: C10.1, P06.261 Borkowski, T.: C10.1 Borlongan, C. V.: P08.75 Boro, A.: P04.151 Borobio, V.: P03.42 Borowski, K.: C06.1 Borozdin, W.: C06.1 Borràs, E.: P04.022 Borreca, A.: P06.017, P06.128 Borrego, S.: P05.088, P06.130, P06.254 Borrell, A.: P03.42 Borrelli, L.: P01.093 Borry, P.: c14.2, EP14.02, EPL2.1 Bors, A.: P04.091, P08.66 Bortlová, A.: P04.157 Borucka-Mankiewicz, M.: P01.079, P01.080, P07.076 Borzani, I.: P06.010 Bosch, F.: P04.078 Bosch, M.: P02.228 Bosch, R.: P06.005 Boschiero, L.: P04.170, P04.189 Bosgoed, E.: P06.196 Bosi, A.: P10.23 Bosio, L.: P05.027 Bosomworth, C.: P07.037 Bossuyt, P.: EP07.4, P03.64, P09.73 Botelho, P.: P02.190 Botev, P.: P07.098 Botsina, A. B.: P05.105 Botta, A.: P01.113, P01.215 Botta, G.: PL2.6 Bottani, A.: P01.269 Botta-Orfila, T.: P02.234 Bottillo, I.: P01.194, P04.013 Bottomley, M.: P05.002, P09.55 Bouba, I.: P06.239 Bouchard, J.: P06.018 Bouchard, K.: EP12.1 Bouchardy, I.: P01.269 Bouché, V.: P01.061 Boucly, C.: P01.057 Bougeard, G.: P04.156 Bouhoutsou, D.: P04.082 Boukhris, A.: P05.184, P05.185 Bouman, K.: P03.62 Bourbon, M.: P05.042, P05.043, P05.112 Bourdon, V.: P04.046 Bourgain, C.: P06.311 Bours, V.: C08.1, P01.035, P02.076 Bous<strong>of</strong>fara, R.: P05.114 Boussaada, R.: P05.066 Boute, O.: C02.1, C11.3, P01.336 Bouwer, S.: P07.105 Bouwman, C. M.: EP09.1 Bouzamondo, A.: P01.057 Bouzguenda, S.: P02.046 Bove, M.: P05.027 Bovo, G.: P04.128 Bowcock, A. M.: P06.317 Bowcock, A.: P06.244 Bowen, J.: EPL6.1 Boxall, S.: EP14.12 Boyadjiev Boyd, S. A.: P01.268 Bozinova, V.: P05.176 Bozorgmehr, B.: P01.143, P01.283 Bozzini, M.: P08.17 Bozzuto, G.: P04.188 Braathen, G. J.: P01.229, P01.230 Braathen, G.: P01.179 Bracegirdle, P.: P07.082 Bračič, K.: P06.312 Bradley, A.: P02.031 Bradley, T. J.: P10.18 Bradman, N.: P07.138 Brady, A. F.: P07.037 Brady, C.: P09.57 Braga, S.: P04.044 Bragason, B. T.: C03.5 Bragina, E. Y.: P07.102, P07.117 Bragina, E.: P06.028, P06.282 Braha, E.: P01.259, P02.047 Brahmachari, S.: P08.20 Brahmanandham, G.: P07.040 Brain, K.: EP14.06, EP14.18, EPL6.5 Brais, B.: P01.217 Brakensiek, K.: P05.086, P06.090 Brambilla, M.: P01.191 Brambilla, T.: P06.224 Brancati, F.: P01.239, P06.117, P06.144 Branco, C. C.: P04.049, P06.044, P06.050, P07.127 Brandstätter, A.: P06.157 Brandt-Bohne, U.: P06.094 Brasch-Andersen, C.: P07.118 Braschinsky, M.: P05.186 Brasseur, B.: P01.120 Braude, P.: P03.28 Bravi, C.: EP14.12 Brazma, D.: P02.011 Breckpot, J.: C04.5, P08.15 Breedveld, G.: P06.149 Brega, A.: C06.6, P01.334 Bregant, E.: P08.36 Brehm, A.: P07.011, P07.050, P07.084, P07.135, P07.137 Brejcha, M.: P04.118 Brekke, H.: P01.194 Brennan, C.: P04.192 Brentonego, R.: P04.170 Bressac-de Paillerets, B.: P04.156 Breuning, M. H.: P02.161, P05.217 Brezinova, J.: P04.071, P04.106 Brice, A.: P05.184, P05.185 Brice, G.: P01.173 Briec, F.: P05.166 Brieva, J. A.: P01.328, P05.179 Briggs, M.: P01.146 Brik, R.: P01.344 Brilhante, M. J.: P04.049, P07.127 Brilstra, E. H.: P02.067 Brión, M.: P05.092 Briones, P.: P01.058 Brisset, S.: P03.29 Brisson, D.: P09.06 Broberg, K.: P04.147 Brockmöller, J.: P05.201, P06.216 Brody, L.: EPL5.2, C03.6 Bronnikov, D.: P06.188 Brookes, A. J.: P08.20 Brookes, D.: C10.3 Broomer, A.: P08.17 Brouillard, P.: C02.1 Brouwer, T.: EW4.1 Brown, G.: C10.3 Brown, K. K.: P01.277 Brown, S. A.: P06.066 Browning, B.: C07.6 Brózik, A.: P08.66 Bruges Armas, J.: P05.085, P07.128 Brugières, L.: P04.156 Bruguera, J.: P02.155, P03.11, P03.42, P03.63 Bruha, R.: P01.072 Bruhn, K.: P02.022 Bruinenberg, M.: P06.045 Brun, M.: P05.094 Brunelli, S.: C12.2 Brunet, A.: P02.125, P06.063 Brunet, J.: EP10.03, EPL3.3 Brunner, H. G.: C01.1, C03.2, P08.04, PL2.1 Brunner, H.: P01.282 Brusco, A.: P05.136 Brussino, A.: P05.136 Bruttini, M.: C10.2, P01.087, P01.249 Bryant, L. D.: EPL4.2, EPL4.3 Buccoliero, A.: P04.204 Buckley, M.: P01.152 Buckova, H.: P05.038 Budau, G.: P02.118 Budisteanu, M.: P02.051 Bueno, I.: P01.341 Buentello, L.: P07.032 Bui, T. H.: s10.1 Buikin, S. V.: P06.298,
Author Index P07.117 Buil, A.: P06.159, P06.283 Buitelaar, J. K.: P06.208 Buiting, K.: C06.1, C06.3 Bujoran, C.: P02.214 Bujtor, Z.: P06.173 Bukhari, I. A.: P06.090 Bukreeva, O. P.: P06.113 Bukulmez, A.: P05.049 Bukvic, D.: P07.015 Bulakbasi, T.: P03.35, P04.108 Bulatović, M.: P02.159 Bulli, C.: P06.302 Buluggiu, A.: C11.4 Bumbacila, B. G.: P04.136, P04.182 Bunjevacki, V.: P02.220, P04.112, P06.097 Bunyan, D. J.: P01.115 Burbach, J. P. H.: P02.067 Burbridge, J.: C09.1 Burcos, T.: P04.041 Burek, M.: P02.189, P02.215, P03.59, P07.114 Burfeind, P.: C06.1, P04.154 Burgelin, I.: P01.250 Burglen, L.: P01.318, P05.151 Burjanivova, T.: P04.095 Burkart, D. L.: P08.61 Burke, S.: C14.6, EP10.07 Burloiu, C.: P01.216 Burnett, E.: P07.082 Burnichon, N.: P05.132 Burrows, P. E.: C06.4 Burtey, S.: P05.158 Burton, M.: P04.196 Buschgens, C. J. M.: P06.208 Buser, R.: P08.39 Busonero, F.: C08.3, C08.4 Bustamante Aragones, A.: P03.23, P03.51 Bustins, A.: P02.078 Butcher, B.: C01.4 Butler, R.: P01.101 Butnariu, L. I.: P01.178 Butnariu, L.: P02.047 Butoianu, N.: P01.216 Butow, P. N.: EPL3.5 Buyse, G.: P05.099 Buysse, K.: P02.096, P05.013 Buyukcelik, M.: P06.203 Buyukpinarbasili, N.: P04.171, P04.172 Buzás, E.: P06.202 Byichkova, O. Y.: P06.043, P07.028, P07.117 Bylstra, Y.: P09.07 Byrne, P.: P05.184 Byrnes, G. B.: P04.121 Byrski, T.: C10.1 Bystrova, A. A.: P06.024 Caba, L.: P01.329 Cabot, A.: P07.017 Cabral, A.: P05.042 Cabral, R.: P04.049, P06.044, P06.050, P07.127 Cabral, W. A.: c03.6 Cabrera Miranda, M.: P06.090 Cabrera, E.: EP10.04 Cabrera, G.: P01.056 Cabrol, S.: P01.343 Cacchiò, G.: P05.018 Cacciagli, P.: P02.203 Caceres, D.: P01.327 Cáceres, M.: P08.77 Caglayan, S.: C07.5 Cagnoli, C.: P05.136 Cai, L.: P04.061, P06.307 Caimari, M.: P01.164 Cakir, O.: P06.320 Calabrese, O.: P05.136, P09.53 Calaf, M.: P04.032 Caldés, T.: P04.011, P04.022 Calender, A.: P01.293, P05.132 Calevo, M. G.: C11.4 Caliebe, A.: P02.022, P02.090 Caliskan, M. O.: P01.156 Caliskan, U.: P04.113 Callaewert, B.: P01.316 Callegari-Jacques, S. M.: P06.213 Callewaert, B. L.: c11.3 Callier, P.: P02.145 Caloca, M.: P04.134 Calopa, M.: P05.189 Caluseriu, O.: P01.144 Calvas, P.: P05.141 Calvo, M.: P01.106, P02.166, P06.250, P08.63 Calzolari, E.: P07.052, P09.53 Camacho-Garcia, R. J.: P06.098 Camajova, J.: P05.192, P09.57, P09.69, P09.73 Câmara, R.: P07.011 Camargo, L. M. A.: P06.163 Cambon-Thomsen, A.: P08.20 Camden, S.: EP12.1 Camelin, K.: P05.162 Campanera, S.: P06.245 Campanhol, C. D.: P02.208 Campanhol, C. L.: P02.181, P03.65 Campbell, H.: C08.6, P06.153, P07.061, P07.068, P07.077 Campiotti, L.: P04.084 Campistol, J.: P05.029 Campo, E.: P04.078, P04.110 Campos, B.: P01.198 Campos, N. L. V.: P02.072 Camposampiero, D.: P05.169 Campos-Barros, Á.: P01.165 Campos-Xavier, B.: P01.132 Camps, C.: P01.075 Camu, W.: P06.018 Camus, M.: P01.272 Can, G.: P07.109, P07.126 Cañadas, P.: P03.24, P03.41 Canals, I.: P01.069 Canatan, D.: P01.013 Candan, S.: C01.6 Candenas, M. L.: P05.140 Candiano, G.: P05.059 Canepa, G.: P01.151 Canet, B.: C15.2, P01.196 Canete, A.: P04.167, P04.168 Canfield, D.: P08.83 Caniati, L.: P06.010 Cankaya, T.: P06.021 Cankus, G.: P01.262 Cantalapiedra, D.: P03.51, P05.190, P05.210, P06.324, P07.108 Canto de Cetina, T.: P06.186 Cantu Garza, J. M.: P09.04 Cañueto Álvarez, J.: P05.209 Canzian, F.: P05.186 Cao, A.: C08.4, P02.110, P05.009, P06.140 Capasso, P.: P01.038 Capel, L.: P01.041, P03.29 Capellá, G.: C15.2, P04.018, P04.022, P04.024, P04.032, P06.281 Cappellacci, S.: P01.148 Cappelli, A.: P05.018, P05.131 Capra, V.: P01.114 Caracciolo, M.: P05.129 Carasevici, E.: P02.214, P04.031 Carballido Viejo, M.: P02.066 Carballo, A.: P04.184 Carbonell, D.: P02.156 Carboneras, M.: P02.122 Carboni, I.: P01.126, P05.014 Carcavilla, A.: P05.163 Cardero, R.: P01.157, P06.324 Cardero-Merlo, R.: P03.51 Cardo, L.: P03.07 Cardos, G.: P02.051, P04.083, P04.089, P04.090, P07.089 Carelle-Calmels, N.: P02.152 Carelli, V.: P04.174 Carette, M.: P01.293 Carey, J. C.: P02.043 Caria, C.: P06.140 Caria, H.: P05.070, P05.072, P06.152, P06.210 Caridi, G.: P05.059, P05.203, P06.274 Carin, M.: P06.203 Carless, M. A.: P07.031 Carleton, B. C.: P06.232 Carlini, F.: P04.188 Carlos, B.: P07.085 Carmeliet, P.: C02.1 Carmellini, M.: P01.249 Carmen, R.: P03.23 Carneiro, V.: P04.049 Carninci, P.: PL3.2 Caroli, M.: P01.191 Caron, I.: P09.15, P09.34 Carrabino, S.: P06.240 Carracedo, A.: EP10.20, P01.039, P01.236, P01.242, P04.005, P04.011, P04.027, P04.184, P05.083, P05.092, P06.063, P06.262, P06.263 Carraro, D. M.: P04.028,
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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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Page 425 and 426: Genetic counselling, education, gen
Page 433 and 434: Therapy for genetic disease 0 proce
Page 435 and 436: Therapy for genetic disease The die
Page 437 and 438: Therapy for genetic disease Science
Page 439 and 440: Therapy for genetic disease P10.26
Page 441 and 442: EMPAG Plenary Lectures and perceive
Page 443 and 444: EMPAG Plenary Lectures 0 mutation i
Page 445 and 446: EMPAG Plenary Lectures EPL5.2 the m
Page 447 and 448: EMPAG Workshops Methods The matrix
Page 449 and 450: EMPAG Posters their own home . It e
Page 451 and 452: EMPAG Posters with resultant specia
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Page 455 and 456: EMPAG Posters ties raised by IBMPFD
Page 457 and 458: EMPAG Posters ics, Nicosia, Cyprus,
Page 459 and 460: EMPAG Posters In collaboration with
Page 461 and 462: EMPAG Posters most patients’ psyc
Page 463 and 464: EMPAG Posters 0 EP13.2 Decision mak
Page 465 and 466: EMPAG Posters Objective . GeneBanC
Page 467 and 468: EMPAG Posters EP14.12 the role of t
Page 469 and 470: EMPAG Posters patient (35% vs . 26%
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: Author Index Berwouts, S.: P09.20,
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 and 512: Author Index 0 Rogers, M.: EP14.18
Page 513 and 514: Author Index 0 Scarcella, M.: P05.0
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
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Keyword Index cardiac: S04.1 Cardio
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Keyword Index Crohn: P07.022 Crohn
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Keyword Index evolution: P02.112, P
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Keyword Index 0 haemoglobinopathies
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Keyword Index KCNJ11: P05.026 KCNQ1
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Keyword Index MLH1: P04.010, P04.02
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Keyword Index osteochondrodysplasia
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Keyword Index PXE-like syndrome: P0
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Keyword Index 0 sperm: P02.205 sper
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Keyword Index venous thrombosis: P0
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2008 Barcelona - European Society of Human Genetics

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