תוצאות חיפוש - Pastor, Victor

Evaluation of a novel microfluidic immuno-magnetic agglutination assay method for detection of dengue virus NS1 antigen מאת Alejo-Cancho, Izaskun, Navero-Castillejos, Jessica, Peiró-Mestres, Aida, Albarracín, Rosa, Barrachina, Josep, Navarro, Alexander, Gonzalo, Verónica, Pastor, Víctor, Muñoz, José, Martínez, Miguel J.

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Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7 מאת Pastor, Victor B., Sahoo, Sushree S., Boklan, Jessica, Schwabe, Georg C., Saribeyoglu, Ebru, Strahm, Brigitte, Lebrecht, Dirk, Voss, Matthias, Bryceson, Yenan T., Erlacher, Miriam, Ehninger, Gerhard, Niewisch, Marena, Schlegelberger, Brigitte, Baumann, Irith, Achermann, John C., Shimamura, Akiko, Hochrein, Jochen, Tedgård, Ulf, Nilsson, Lars, Hasle, Henrik, Boerries, Melanie, Busch, Hauke, Niemeyer, Charlotte M., Wlodarski, Marcin W.

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Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia מאת Wlodarski, Marcin W., Da Costa, Lydie, O’Donohue, Marie-Françoise, Gastou, Marc, Karboul, Narjesse, Montel-Lehry, Nathalie, Hainmann, Ina, Danda, Dominika, Szvetnik, Amina, Pastor, Victor, Paolini, Nahuel, di Summa, Franca M., Tamary, Hannah, Quider, Abed Abu, Aspesi, Anna, Houtkooper, Riekelt H., Leblanc, Thierry, Niemeyer, Charlotte M., Gleizes, Pierre-Emmanuel, MacInnes, Alyson W.

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Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes מאת Nagata, Yasunobu, Narumi, Satoshi, Guan, Yihong, Przychodzen, Bartlomiej P., Hirsch, Cassandra M., Makishima, Hideki, Shima, Hirohito, Aly, Mai, Pastor, Victor, Kuzmanovic, Teodora, Radivoyevitch, Tomas, Adema, Vera, Awada, Hassan, Yoshida, Kenichi, Li, Samuel, Sole, Francesc, Hanna, Rabi, Jha, Babal K., LaFramboise, Thomas, Ogawa, Seishi, Sekeres, Mikkael A., Wlodarski, Marcin W., Cammenga, Jörg, Maciejewski, Jaroslaw P.

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Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue מאת Sharma, Richa, Sahoo, Sushree S., Honda, Masayoshi, Granger, Sophie L., Goodings, Charnise, Sanchez, Louis, Künstner, Axel, Busch, Hauke, Beier, Fabian, Pruett-Miller, Shondra M., Valentine, Marcus B., Fernandez, Alfonso G., Chang, Ti-Cheng, Géli, Vincent, Churikov, Dmitri, Hirschi, Sandrine, Pastor, Victor B., Boerries, Melanie, Lauten, Melchior, Kelaidi, Charikleia, Cooper, Megan A., Nicholas, Sarah, Rosenfeld, Jill A., Polychronopoulou, Sophia, Kannengiesser, Caroline, Saintomé, Carole, Niemeyer, Charlotte M., Revy, Patrick, Wold, Marc S., Spies, Maria, Erlacher, Miriam, Coulon, Stéphane, Wlodarski, Marcin W.

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Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency מאת Kozyra, Emilia J., Pastor, Victor B., Lefkopoulos, Stylianos, Sahoo, Sushree S., Busch, Hauke, Voss, Rebecca K., Erlacher, Miriam, Lebrecht, Dirk, Szvetnik, Enikoe A., Hirabayashi, Shinsuke, Pasaulienė, Ramunė, Pedace, Lucia, Tartaglia, Marco, Klemann, Christian, Metzger, Patrick, Boerries, Melanie, Catala, Albert, Hasle, Henrik, de Haas, Valerie, Kállay, Krisztián, Masetti, Riccardo, De Moerloose, Barbara, Dworzak, Michael, Schmugge, Markus, Smith, Owen, Starý, Jan, Mejstrikova, Ester, Ussowicz, Marek, Morris, Emma, Singh, Preeti, Collin, Matthew, Derecka, Marta, Göhring, Gudrun, Flotho, Christian, Strahm, Brigitte, Locatelli, Franco, Niemeyer, Charlotte M., Trompouki, Eirini, Wlodarski, Marcin W.

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Association of unbalanced translocation der(1;7) with germline GATA2 mutations מאת Kozyra, Emilia J., Göhring, Gudrun, Hickstein, Dennis D., Calvo, Katherine R., DiNardo, Courtney D., Dworzak, Michael, de Haas, Valerie, Starý, Jan, Hasle, Henrik, Shimamura, Akiko, Fleming, Mark D., Inaba, Hiroto, Lewis, Sara, Hsu, Amy P., Holland, Steven M., Arnold, Danielle E., Mecucci, Cristina, Keel, Siobán B., Bertuch, Alison A., Tawana, Kiran, Barzilai, Shlomit, Hirabayashi, Shinsuke, Onozawa, Masahiro, Lei, Shaohua, Alaiz, Helena, Andrikovics, Hajnalka, Betts, David, Beverloo, Berna H., Buechner, Jochen, Čermák, Martin, Cervera, José, Haus, Olga, Jahnukainen, Kirsi, Manola, Kalliopi N., Nebral, Karin, Pasquali, Francesco, Tchinda, Joelle, Turkiewicz, Dominik, Van Roy, Nadine, Zemanova, Zuzana, Pastor, Victor B., Strahm, Brigitte, Noellke, Peter, Niemeyer, Charlotte M., Schlegelberger, Brigitte, Yoshimi, Ayami, Wlodarski, Marcin W.

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Clinical Evolution, Genetic Landscape, and Trajectories of Clonal Hematopoiesis in SAMD9/SAMD9L Syndromes מאת Sahoo, Sushree S, Pastor, Victor B, Goodings, Charnise, Voss, Rebecca K, Kozyra, Emilia J, Szvetnik, Amina, Noellke, Peter, Dworzak, Michael, Stary, Jan, Locatelli, Franco, Masetti, Riccardo, Schmugge, Markus, De Moerloose, Barbara, Catala, Albert, Kállay, Krisztián, Turkiewicz, Dominik, Hasle, Henrik, Buechner, Jochen, Jahnukainen, Kirsi, Ussowicz, Marek, Polychronopoulou, Sophia, Smith, Owen P, Fabri, Oksana, Barzilai, Shlomit, de Haas, Valerie, Baumann, Irith, Schwarz-Furlan, Stephan, Niewisch, Marena R, Sauer, Martin G, Burkhardt, Birgit, Lang, Peter, Bader, Peter, Beier, Rita, Müller, Ingo, Albert, Michael H, Meisel, Roland, Schulz, Ansgar, Cario, Gunnar, Panda, Pritam K, Wehrle, Julius, Hirabayashi, Shinsuke, Derecka, Marta, Durruthy-Durruthy, Robert, Göhring, Gudrun, Yoshimi-Noellke, Ayami, Ku, Manching, Lebrecht, Dirk, Erlacher, Miriam, Flotho, Christian, Strahm, Brigitte, Niemeyer, Charlotte M, Wlodarski, Marcin W

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Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing מאת Newman, Scott, Nakitandwe, Joy, Kesserwan, Chimene A., Azzato, Elizabeth M., Wheeler, David A., Rusch, Michael, Shurtleff, Sheila, Hedges, Dale J., Hamilton, Kayla V., Foy, Scott G., Edmonson, Michael N., Thrasher, Andrew, Bahrami, Armita, Orr, Brent A., Klco, Jeffery M., Gu, Jiali, Harrison, Lynn W., Wang, Lu, Clay, Michael R., Ouma, Annastasia, Silkov, Antonina, Liu, Yanling, Zhang, Zhaojie, Liu, Yu, Brady, Samuel W., Zhou, Xin, Chang, Ti-Cheng, Pande, Manjusha, Davis, Eric, Becksfort, Jared, Patel, Aman, Wilkinson, Mark R., Rahbarinia, Delaram, Kubal, Manish, Maciaszek, Jamie L., Pastor, Victor, Knight, Jay, Gout, Alexander M., Wang, Jian, Gu, Zhaohui, Mullighan, Charles G., McGee, Rose B., Quinn, Emily A., Nuccio, Regina, Mostafavi, Roya, Gerhardt, Elsie L., Taylor, Leslie M., Valdez, Jessica M., Hines-Dowell, Stacy J., Pappo, Alberto S., Robinson, Giles, Johnson, Liza-Marie, Pui, Ching-Hon, Ellison, David W., Downing, James R., Zhang, Jinghui, Nichols, Kim E.

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