Výsledky vyhledávání - Cuperus, Roos
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AKT Hyperphosphorylation and T Cell Exhaustion in Down Syndrome Autor Peeters, Daphne, Pico-Knijnenburg, Ingrid, Wieringa, Douwe, Rad, Mandana, Cuperus, Roos, Ruige, Madelon, Froeling, Frank, Zijp, Gerda W., van der Burg, Mirjam, Driessen, Gertjan J. A.
Vydáno 2022Text -
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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology Autor Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Tsai, Anne Chun-Hui, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.
Vydáno 2022Text -
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature Autor Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J.M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B.A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T.R.M., Stevens, Servi J.C., Vermeulen, Jeroen R., van Harssel, Jeske V.T., Bosch, Danielle G.M., van Gassen, Koen L.I., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata J.M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna
Vydáno 2021Text