After-school sports programmes and social inclusion processes in culturally diverse contexts: Results of an international multicase study

por Carter-Thuillier, Bastian, López-Pastor, Víctor, Gallardo-Fuentes, Francisco, Carter-Beltran, Juan, Fernández-Balboa, Juan-Miguel, Delgado-Floody, Pedro, Grimminger-Seidensticker, Elke, Sortwell, Andrew
Publicado 2023

Evaluation of a novel microfluidic immuno-magnetic agglutination assay method for detection of dengue virus NS1 antigen

por Alejo-Cancho, Izaskun, Navero-Castillejos, Jessica, Peiró-Mestres, Aida, Albarracín, Rosa, Barrachina, Josep, Navarro, Alexander, Gonzalo, Verónica, Pastor, Víctor, Muñoz, José, Martínez, Miguel J.
Publicado 2020

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

por 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.
Publicado 2018

Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia

por 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.
Publicado 2018

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

por 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.
Publicado 2022

Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

por 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.
Publicado 2020

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing

por 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.
Publicado 2021