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261por Harnoss, Jonathan M., Le Thomas, Adrien, Shemorry, Anna, Marsters, Scot A., Lawrence, David A., Lu, Min, Chen, Yung-Chia Ariel, Qing, Jing, Totpal, Klara, Kan, David, Segal, Ehud, Merchant, Mark, Reichelt, Mike, Ackerly Wallweber, Heidi, Wang, Weiru, Clark, Kevin, Kaufman, Susan, Beresini, Maureen H., Laing, Steven T., Sandoval, Wendy, Lorenzo, Maria, Wu, Jiansheng, Ly, Justin, De Bruyn, Tom, Heidersbach, Amy, Haley, Benjamin, Gogineni, Alvin, Weimer, Robby M., Lee, Dong, Braun, Marie-Gabrielle, Rudolph, Joachim, VanWyngarden, Michael J., Sherbenou, Daniel W., Gomez-Bougie, Patricia, Amiot, Martine, Acosta-Alvear, Diego, Walter, Peter, Ashkenazi, AviEnlace del recurso
Publicado 2019
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262por Li, Yan, Tinoco, Roberto, Elmén, Lisa, Segota, Igor, Xian, Yibo, Fujita, Yu, Sahu, Avinash, Zarecki, Raphy, Marie, Kerrie, Feng, Yongmei, Khateb, Ali, Frederick, Dennie T., Ashkenazi, Shiri K., Kim, Hyungsoo, Perez, Eva Guijarro, Day, Chi-Ping, Segura Muñoz, Rafael S., Schmaltz, Robert, Yooseph, Shibu, Tam, Miguel A., Zhang, Tongwu, Avitan-Hersh, Emily, Tzur, Lihi, Roizman, Shoshana, Boyango, Ilanit, Bar-Sela, Gil, Orian, Amir, Kaufman, Randal J., Bosenberg, Marcus, Goding, Colin R., Baaten, Bas, Levesque, Mitchell P., Dummer, Reinhard, Brown, Kevin, Merlino, Glenn, Ruppin, Eytan, Flaherty, Keith, Ramer-Tait, Amanda, Long, Tao, Peterson, Scott N., Bradley, Linda M., Ronai, Ze’ev A.Enlace del recurso
Publicado 2019
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263por Pisano, Michele, Zorcolo, Luigi, Merli, Cecilia, Cimbanassi, Stefania, Poiasina, Elia, Ceresoli, Marco, Agresta, Ferdinando, Allievi, Niccolò, Bellanova, Giovanni, Coccolini, Federico, Coy, Claudio, Fugazzola, Paola, Martinez, Carlos Augusto, Montori, Giulia, Paolillo, Ciro, Penachim, Thiago Josè, Pereira, Bruno, Reis, Tarcisio, Restivo, Angelo, Rezende-Neto, Joao, Sartelli, Massimo, Valentino, Massimo, Abu-Zidan, Fikri M., Ashkenazi, Itamar, Bala, Miklosh, Chiara, Osvaldo, de’ Angelis, Nicola, Deidda, Simona, De Simone, Belinda, Di Saverio, Salomone, Finotti, Elena, Kenji, Inaba, Moore, Ernest, Wexner, Steven, Biffl, Walter, Coimbra, Raul, Guttadauro, Angelo, Leppäniemi, Ari, Maier, Ron, Magnone, Stefano, Mefire, Alain Chicom, Peitzmann, Andrew, Sakakushev, Boris, Sugrue, Michael, Viale, Pierluigi, Weber, Dieter, Kashuk, Jeffry, Fraga, Gustavo P., Kluger, Ioran, Catena, Fausto, Ansaloni, LucaEnlace del recurso
Publicado 2018
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264por Aggarwal, Anamika, Amendola, Chiara, Apolinario, Liliana, Arling, Jan-Hendrik, Ashkenazi, Adi, Augsten, Kamil, Baglio, Julien, Bakos, Evelin, Barak, Liron, Bastos, Diogo, Bilin, Bugra, Biondi, Silvia, Kraljevic, Neven Blaskovic, Brenner, Lydia, Brizioli, Francesco, Camper, Antoine, Camplani, Alessandra, Vidal, Xabier Cid, Dag, Hüseyin, Dias, Flavia de Almeida, Diociaiuti, Eleonora, van Doremalen, Lennart, Dunne, Katherine, Erhardt, Filip, Manteca, Pedro Fernández, Geanta, Andrei Alexandru, Ghinescu, Stefan Alexandru, Gouskos, Loukas, Herzan, Andrej, Hinger, Viktoria, Hiti, Bojan, Ilg, Armin, Inguglia, Gianluca, Irles, Adrián, Jansen, Hendrik, Jarkovská, Kateřina, Keszeghova, Lucia, Kirschenmann, Henning, Konstantinou, Sotiroulla, Kuich, Magdalena, Kumari, Neelam, Gajdošová, Katarína Křížková, Lelek, Aleksandra, Lorenz, Jeanette, Carvalho, Ana Luisa, Malczewski, Jakub, Mancini, Giada, Mann, Alexander, Martikainen, Laura, Maurice, Émilie, Mee, Seán, Milenovic, Predrag, Milosevic, Vukasin, Moravcova, Zuzana, Valero, Laura Moreno, Moureaux, Louis, Mäntysaari, Heikki, Nikiforou, Nikiforos, Otarid, Younes, Pearce, Alex, Pitt, Michael, Placinta, Vlad-Mihai, Ripellino, Giulia, Roberts, Bryn, Šantelj, Luka, Schramm, Steven, Shopova, Mariana, Skovpen, Kirill, Smolkovič, Aleks, Sokmen, Gamze, Sznajder, Paweł, Waldron, Abigail Victoria, Williams, Sarah, Zaccolo, Valentina, Zeyen, ManuelEnlace del recurso
Publicado 2021
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265por Alexandru Geanta, Andrei, Amendola, Chiara, Apolinario, Liliana, Arling, Jan-Hendrik, Ashkenazi, Adi, Augsten, Kamil, Bagnaschi, Emanuele, Bakos, Evelin, Barak, Liron, Bastos, Diogo, Benato, Giovanni, Bilin, Bugra, Blaskovic Kraljevic, Neven, Brenner, Lydia, Brizioli, Francesco, Camper, Antoine, Camplani, Alessandra, Cid Vidal, Xabier, Dag, Hüseyin, de Almeida Dias, Flavia, Degens, Jordy, Diociaiuti, Eleonora, Dufour, Laurent, Dunne, Katherine, Erhardt, Filip, Ghinescu, Stefan-Alexandru, Gouskos, Loukas, Herzan, Andrej, Hinger, Viktoria, Hiti, Bojan, Ilg, Armin, Irles, Adrián, Jarkovská, Katerina, Jovicevic, Jelena, Keszeghova, Lucia, Kirschenmann, Henning, Klaver, Suzanne, Konstantinou, Sotiroulla, Kuich, Magdalena, Kumari, Neelam, Gajdošová, Katarína Kˇrížková, Lelek, Aleksandra, Lorenz, Jeanette, Luisa Carvalho, Ana, Major, Péter, Malczewski, Jakub, Mancini, Giada, Martikainen, Laura, Maurice, Emilie, Mee, Seán, Milosevic, Vukasin, Moravcova, Zuzana, Moreno Valero, Laura, Moureaux, Louis, Mäntysaari, Heikki, Nikiforou, Nikiforos, Otarid, Younes, Pitt, Michael, Placinta, Vlad-Mihai, Räuber, Géraldine, Ripellino, Giulia, Roberts, Bryn, Santelj, Luka, Schramm, Steven, Shopova, Mariana, Skovpen, Kirill, Smolkovič, Aleks, Sokmen, Gamze, Sznajder, Pawe l., Urda Gomez, Lourdes, Waldron, Abigail Victoria, Williams, Sarah, Zaccolo, Valentina, Zardoshti, Nima, Zeyen, ManuelEnlace del recurso
Publicado 2022
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266por Abdallah, Jalal, Araujo, Henrique, Arbey, Alexandre, Ashkenazi, Adi, Belyaev, Alexander, Berger, Joshua, Boehm, Celine, Boveia, Antonio, Brennan, Amelia, Brooke, Jim, Buchmueller, Oliver, Buckley, Matthew, Busoni, Giorgio, Calibbi, Lorenzo, Chauhan, Sushil, Daci, Nadir, Davies, Gavin, De Bruyn, Isabelle, de Jong, Paul, De Roeck, Albert, de Vries, Kees, del Re, Daniele, De Simone, Andrea, Di Simone, Andrea, Doglioni, Caterina, Dolan, Matthew, Dreiner, Herbi K., Ellis, John, Eno, Sarah, Etzion, Erez, Fairbairn, Malcolm, Feldstein, Brian, Flaecher, Henning, Feng, Eric, Fox, Patrick, Genest, Marie-Hélène, Gouskos, Loukas, Gramling, Johanna, Haisch, Ulrich, Harnik, Roni, Hibbs, Anthony, Hoh, Siewyan, Hopkins, Walter, Ippolito, Valerio, Jacques, Thomas, Kahlhoefer, Felix, Khoze, Valentin V., Kirk, Russell, Korn, Andreas, Kotov, Khristian, Kunori, Shuichi, Landsberg, Greg, Liem, Sebastian, Lin, Tongyan, Lowette, Steven, Lucas, Robyn, Malgeri, Luca, Malik, Sarah, McCabe, Christopher, Mete, Alaettin Serhan, Morgante, Enrico, Mrenna, Stephen, Nakahama, Yu, Newbold, Dave, Nordstrom, Karl, Pani, Priscilla, Papucci, Michele, Pataraia, Sophio, Penning, Bjoern, Pinna, Deborah, Polesello, Giacomo, Racco, Davide, Re, Emanuele, Riotto, Antonio Walter, Rizzo, Thomas, Salek, David, Sarkar, Subir, Schramm, Steven, Skubic, Patrick, Slone, Oren, Smirnov, Juri, Soreq, Yotam, Sumner, Timothy, Tait, Tim M.P., Thomas, Marc, Tomalin, Ian, Tunnell, Christopher, Vichi, Alessandro, Volansky, Tomer, Weiner, Neal, West, Stephen M., Wielers, Monika, Worm, Steven, Yavin, Itay, Zaldivar, Bryan, Zhou, Ning, Zurek, KathrynEnlace del recurso
Publicado 2015
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267por Khachatryan, M, Papadopoulou, A, Ashkenazi, A, Hauenstein, F, Nambrath, A, Hrnjic, A, Weinstein, L B, Hen, O, Piasetzky, E, Betancourt, M, Dytman, S, Mahn, K, Coloma, P, Adhikari, S, Amaryan, M J, Angelini, Giovanni, Atac, H, Barion, L, Battaglieri, M, Bedlinskiy, I, Beck, A, Benmokhtar, F, Bianconi, A, Biselli, A S, Bossu, F, Boiarinov, S, Briscoe, W J, Brooks, W K, Bulumulla, D, Burkert, V D, Carman, D S, Carvajal, J C, Celentano, A, Chatagnon, P, Chesnokov, V, Chetry, T, Ciullo, G, Clark, L, Clary, B A, Cohen, E O, Cole, P L, Contalbrigo, M, Crede, V, Cruz-Torres, R, D’Angelo, A, Dashyan, N, De Vita, R, Defurne, M, Denniston, A, Deur, A, Diehl, S, Djalali, C, Duer, M, Dupre, R, Egiyan, H, Ehrhart, M, El Alaoui, A, El Fassi, L, Elouadrhiri, L, Eugenio, P, Fersch, R, Filippi, A, Forest, T A, Gavalian, G, Gilfoyle, G P, Giovanetti, K L, Girod, F X, Glazier, D I, Golovatch, E, Gothe, R W, Griffioen, K A, Guidal, M, Guo, L, Hakobyan, H, Hattawy, M, Hayward, T B, Heddle, D, Hicks, K, Hobart, A, Holtrop, M, Ilieva, Y, Ireland, D G, Ishkhanov, B S, Isupov, E L, Jo, H S, Joo, K, Keller, D, Khanal, A, Khandaker, M, Kim, C W, Kim, W, Korover, I, Kubarovsky, V, Kuhn, S E, Lanza, L, Leali, M, Lenisa, P, Livingston, K, MacGregor, I J D, Marchand, D, Markov, N, Marsicano, L, Mascagna, V, McKinnon, B, May-Tal Beck, S, Mineeva, T, Mirazita, M, Mokeev, V, Movsisyan, A, Munoz Camacho, C, Nadel-Turonski, P, Neupane, K, Niccolai, S, Niculescu, G, Osipenko, M, Ostrovidov, A I, Paolone, M, Pappalardo, L L, Paremuzyan, R, Park, K, Pasyuk, E, Pogorelko, O, Poudel, J, Prok, Y, Protopopescu, D, Pybus, J, Ripani, M, Raue, B, Ritman, J, Rizzo, A, Rosner, G, Rossi, P, Sabati, F, Salgado, C, Schmidt, A, Schumacher, R A, Segarra, E P, Sharabian, Y G, Shrestha, U, Skorodumina, Iu, Sokhan, D, Soto, O, Sparveris, N, Stepanyan, S, Strakovsky, I I, Strauch, S, Tyler, N, Tyson, R, Ungaro, M, Venturelli, L, Voskanyan, H, Voutier, E, Watts, D, Wei, X, Wood, M H, Zachariou, N, Zhang, J, Zhao, Z W, Dolan, S, Megias, G D, Gardiner, SEnlace del recurso
Publicado 2021
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268por Campbell, J.M., Diefenthaler, M., Hobbs, T.J., Höche, S., Isaacson, J., Kling, F., Mrenna, S., Reuter, J., Alioli, S., Andersen, J.R., Andreopoulos, C., Ankowski, A.M., Aschenauer, E.C., Ashkenazi, A., Baker, M.D., Barrow, J.L., van Beekveld, M., Bewick, G., Bhattacharya, S., Bierlich, C., Bothmann, E., Bredt, P., Broggio, A., Buckley, A., Butter, A., Butterworth, J.M., Byrne, E.P., Chakraborty, S., Chen, X., Chiesa, M., Childers, J.T., Cruz-Martinez, J., Currie, J., Darvishi, N., Dasgupta, M., Denner, A., Dreyer, F.A., Dytman, S., El-Menoufi, B.K., Engel, T., Ferrario Ravasio, S., Figueroa, D., Flower, L., Forshaw, J.R., Frederix, R., Friedland, A., Frixione, S., Gallagher, H., Gallmeister, K., Gardiner, S., Gauld, R., Gavardi, A., Gehrmann, T., Gehrmann-De Ridder, A., Gellersen, L., Giele, W., Gieseke, S., Giuli, F., Glover, E.W.N., Grazzini, M., Grohsjean, A., Gütschow, C., Hamilton, K., Han, T., Hatcher, R., Heinrich, G., Helenius, I., Hen, O., Hirschi, V., Höfer, M., Holguin, J., Huss, A., Ilten, P., Jadach, S., Jentsch, A., Jones, S.P., Ju, W., Kallweit, S., Karlberg, A., Katori, T., Kerner, M., Kilian, W., Kirchgaeßer, M.M., Klein, S., Knobbe, M., Krause, C., Krauss, F., Lang, J., Lang, J.-N., Lee, G., Li, S.W., Lim, M.A., Lindert, J.M., Lombardi, D., Lönnblad, L., Löschner, M., Lurkin, N., Ma, Y., Machado, P., Magerya, V., Maier, A., Majer, I., Maltoni, F., Marcoli, M., Marinelli, G., Masouminia, M.R., Mastrolia, P., Mattelaer, O., Mazzitelli, J., McFayden, J., Medves, R., Meinzinger, P., Mo, J., Monni, P.F., Morgan, T., Mosel, U., Nachman, B., Nadolsky, P., Nagar, R., Nagy, Z., Napoletano, D., Nason, P., Neumann, T., Nevay, L.J., Niehues, J., Niewczas, K., Ohl, T., Ossola, G., Pandey, V., Papadopoulou, A., Papaefstathiou, A., Paz, G., Pellen, M., Pelliccioli, G., Peraro, T., Pickering, L., Pires, J., Plätzer, S., Plehn, T., Pozzorini, S., Prestel, S., Preuss, C.T., Price, A.C., Quackenbush, S., Re, E., Reichelt, D., Reina, L., Reuschle, C., Richardson, P., Rocco, M., Rocco, N., Roda, M., Garcia, A. Rodriguez, Roiser, S., Rojo, J., Rottoli, L., Salam, G.P., Schönherr, M., Schuchmann, S., Schumann, S., Schürmann, R., Scyboz, L., Seymour, M.H., Siegert, F., Signer, A., Singh Chahal, G., Siódmok, A., Sjöstrand, T., Skands, P., Smillie, J.M., Sobczyk, J.T., Soldin, D., Soper, D.E., Soto-Ontoso, A., Soyez, G., Stagnitto, G., Tena-Vidal, J., Tomalak, O., Tramontano, F., Trojanowski, S., Tu, Z., Uccirati, S., Ullrich, T., Ulrich, Y., Utheim, M., Valassi, A., Verbytskyi, A., Verheyen, R., Wagman, M., Walker, D., Webber, B.R., Weinstein, L., White, O., Whitehead, J., Wiesemann, M., Wilkinson, C., Williams, C., Winterhalder, R., Wret, C., Xie, K., Yang, T-Z., Yazgan, E., Zanderighi, G., Zanoli, S., Zapp, K.Enlace del recurso
Publicado 2022
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269“…DNA samples were assessed for the presence of the MTHFR C677T variant allele in 445 Jewish Israeli IBD patients: 338 with Crohn's disease [CD] (214 Ashkenazi and 124 non-Ashkenazi Jews) and 107 with ulcerative colitis [UC] (73 Ashkenazi and 34 non-Ashkenazi Jews), and in 347 healthy controls: 173 Ashkenazi and 174 Non-Ashkenazi Jews. …”
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270por Weintrob, Naomi, Eyal, Ori, Slakman, Meital, Segev Becker, Anat, Israeli, Galit, Kalter-Leibovici, Ofra, Ben-Shachar, Shay“…METHODS: Healthy Israeli Jewish women aged 18–45 years of Ashkenazi and non-Ashkenazi origin were invited to participate. …”
Publicado 2018
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271por Kadouri, L, Easton, D F, Edwards, S, Hubert, A, Kote-Jarai, Z, Glaser, B, Durocher, F, Abeliovich, D, Peretz, T, Eeles, R A“…We genotyped 188 BRCA1/2 carriers (122 affected and 66 unaffected with breast cancer), 158 of them of Ashkenazi origin, 166 BC cases without BRCA1/2 mutations and 156 Ashkenazi control individuals aged over 56 for the AR CAG and GGC repeats. …”
Publicado 2001
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272“…A single mutation (6174delT) occurs in the BRCA2 gene in high-risk breast ovarian cancer families of Jewish Ashkenazi origin, in about 1% of the general Ashkenazi population, and rarely in non-Ashkenazi Jews. …”
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273por Barroso, Inês, Luan, Jian’an, Wheeler, Eleanor, Whittaker, Pamela, Wasson, Jon, Zeggini, Eleftheria, Weedon, Michael N., Hunt, Sarah, Venkatesh, Ranganath, Frayling, Timothy M., Delgado, Marcos, Neuman, Rosalind J., Zhao, Jinghua, Sherva, Richard, Glaser, Benjamin, Walker, Mark, Hitman, Graham, McCarthy, Mark I., Hattersley, Andrew T., Permutt, M. Alan, Wareham, Nicholas J., Deloukas, Panagiotis“…OBJECTIVE—Single nucleotide polymorphisms (SNPs) in the P2 promoter region of HNF4A were originally shown to be associated with predisposition for type 2 diabetes in Finnish, Ashkenazi, and, more recently, Scandinavian populations, but they generated conflicting results in additional populations. …”
Publicado 2008
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274por Markowitz, Sanford D., Nock, Nora L., Schmit, Stephanie L., Stadler, Zsofia K., Joseph, Vijai, Zhang, Lu, Willis, Joseph E., Scacheri, Peter, Veigl, Martina, Adams, Mark D., Raskin, Leon, Sullivan, John F., Stratton, Kelly, Shia, Jinru, Ellis, Nathan, Rennert, Hedy S., Manschreck, Christopher, Li, Li, Offit, Kenneth, Elston, Robert C., Rennert, Gadi, Gruber, Stephen B.“…We tested for germline variants showing association to colon cancer metastasis using a genome-wide association study that compared Ashkenazi Jewish individuals with stage IV metastatic colon cancers versus those with stage I or II non-metastatic colon cancers. …”
Publicado 2016
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275por Marek-Yagel, Dina, Abudi-Sinreich, Shachar, Macarov, Michal, Veber, Alvit, Shalva, Nechama, Philosoph, Amit Mary, Pode-Shakked, Ben, Malicdan, May Christine V., Anikster, Yair“…The frequency of the c.1163+1G>A splice site variant was found to be 1:200 in the Ashkenazi Jewish population, whereas the large deletion was not detected in 300 Ashkenazi Jewish controls. …”
Publicado 2022
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276por Ewald, Ingrid P, Izetti, Patrícia, Vargas, Fernando R, Moreira, Miguel AM, Moreira, Aline S, Moreira-Filho, Carlos A, Cunha, Danielle R, Hamaguchi, Sara, Camey, Suzi A, Schmidt, Aishameriane, Caleffi, Maira, Koehler-Santos, Patrícia, Giugliani, Roberto, Ashton-Prolla, Patricia“…Thus, the goal of this study was to determine the prevalence of three founder mutations, commonly identified in Ashkenazi individuals in a sample of non-Ashkenazi cancer-affected Brazilian women with clearly defined risk factors for hereditary breast and ovarian cancer (HBOC) syndrome. …”
Publicado 2011
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277“…With a carrier frequency estimated at 1 in 25, it is a common lysosomal disorder in the Ashkenazi Jewish population. Tay-Sachs disease has provided the prototype for the prevention of severe recessive genetic diseases. …”
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278por Valle, Laura, Katz, Lior H, Latchford, Andrew, Mur, Pilar, Moreno, Victor, Frayling, Ian M, Heald, Brandie, Capellá, Gabriel“…While constitutional pathogenic variants in the APC gene cause familial adenomatous polyposis, APC c.3920T>A; p.Ile1307Lys (I1307K) has been associated with a moderate increased risk of colorectal cancer (CRC), particularly in individuals of Ashkenazi Jewish descent. However, published data include relatively small sample sizes, generating inconclusive results regarding cancer risk, particularly in non-Ashkenazi populations. …”
Publicado 2023
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279por Hammer, Michael F., Behar, Doron M., Karafet, Tatiana M., Mendez, Fernando L., Hallmark, Brian, Erez, Tamar, Zhivotovsky, Lev A., Rosset, Saharon, Skorecki, Karl“…Based on genotypes at 12 Y-STRs, we identify an extended CMH on the J-P58* background that predominates in both Ashkenazi and non-Ashkenazi Cohanim and is remarkably absent in non-Jews. …”
Publicado 2009
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280por EINHORN, YARON, WEISSGLAS-VOLKOV, DAPHNA, CARMI, SHAI, OSTRER, HARRY, FRIEDMAN, EITAN, SHOMRON, NOAM“…In order to evaluate the genetic basis of certain diseases encountered at high frequency in the Ashkenazi Jewish population (AJP), as well as to improve variant annotation among the AJP, we examined the entire exome, focusing on specific genes with known clinical implications in 128 Ashkenazi Jews and compared these data to other non-Jewish populations (European, African, South Asian and East Asian). …”
Publicado 2017
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