Výsledky vyhledávání - Meyn, Stephen

THE ROLE OF WHOLE GENOME SEQUENCING AS A DIAGNOSTIC TOOL FOR CHILDREN WITH MEDICAL COMPLEXITY Autor Marano, Maria, Orkin, Julia, Hayeems, Robin, Meyn, Stephen, Snell, Meaghan, Costain, Gregory

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Diagnostic practices and disease surveillance in Canadian children with congenital central hypoventilation syndrome Autor Amin, Reshma, Moraes, Theo J, Skitch, Amy, Irwin, Meredith S, Meyn, Stephen, Witmans, Manisha

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Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome Autor Weksberg, Rosanna, Stachon, Andrea C., Squire, Jeremy A., Moldovan, Laura, Bayani, Jane, Meyn, Stephen, Chow, Eva, Bassett, Anne S.

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Northern lights assay: a versatile method for comprehensive detection of DNA damage Autor Gudmundsson, Bjarki, Thormar, Hans G, Sigurdsson, Albert, Dankers, Wendy, Steinarsdottir, Margret, Hermanowicz, Stefan, Sigurdsson, Stefan, Olafsson, David, Halldorsdottir, Anna M, Meyn, Stephen, Jonsson, Jon J

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PDTM-21. LARGE SCALE TUMOR MUTATIONAL BURDEN ANALYSIS OF PEDIATRIC TUMORS PROVIDES A DIAGNOSTIC TOOL FOR GERMLINE PREDISPOSITION AND REVEALS NOVEL CANDIDATES FOR IMMUNE CHECKPOINT... Autor Campbell, Brittany B, Angelini, Paola, Light, Nicholas, Bouffet, Eric, Larouche, Valerie, Samuel, David, Stearns, Duncan, Cole, Kristina A, Opocher, Enrico, Sabel, Magnus, George, Ben, Ziegler, David, Laperriere, Normand, Meyn, Stephen, Malkin, David, Shlien, Adam, Tabori, Uri

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Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative Autor Nellåker, Christoffer, Alkuraya, Fowzan S., Baynam, Gareth, Bernier, Raphael A., Bernier, Francois P.J., Boulanger, Vanessa, Brudno, Michael, Brunner, Han G., Clayton-Smith, Jill, Cogné, Benjamin, Dawkins, Hugh J.S., deVries, Bert B.A., Douzgou, Sofia, Dudding-Byth, Tracy, Eichler, Evan E., Ferlaino, Michael, Fieggen, Karen, Firth, Helen V., FitzPatrick, David R., Gration, Dylan, Groza, Tudor, Haendel, Melissa, Hallowell, Nina, Hamosh, Ada, Hehir-Kwa, Jayne, Hitz, Marc-Phillip, Hughes, Mark, Kini, Usha, Kleefstra, Tjitske, Kooy, R Frank, Krawitz, Peter, Küry, Sébastien, Lees, Melissa, Lyon, Gholson J., Lyonnet, Stanislas, Marcadier, Julien L., Meyn, Stephen, Moslerová, Veronika, Politei, Juan M., Poulton, Cathryn C., Raymond, F Lucy, Reijnders, Margot R.F., Robinson, Peter N., Romano, Corrado, Rose, Catherine M., Sainsbury, David C.G., Schofield, Lyn, Sutton, Vernon R., Turnovec, Marek, Van Dijck, Anke, Van Esch, Hilde, Wilkie, Andrew O.M.

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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

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