检索结果 - Meyn, Stephen

THE ROLE OF WHOLE GENOME SEQUENCING AS A DIAGNOSTIC TOOL FOR CHILDREN WITH MEDICAL COMPLEXITY 由 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 由 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 由 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 由 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... 由 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 由 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 由 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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