Результати пошуку - Noon, Sarah

A study of universal SARS-CoV-2 RNA testing of residents and staff in a large group of care homes in South London за авторством Marossy, Agnes, Rakowicz, Stefan, Bhan, Angela, Noon, Sarah, Rees, Amanda, Virk, Manjinder, Nazafi, Ayazali, Hay, Evie, de Thomasson, Louise, Windle, Christina, Zuckerman, Mark

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Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment за авторством Finegold, David N., Baty, Catherine J., Knickelbein, Kelly Z., Perschke, Shelley, Noon, Sarah E., Campbell, Diana, Karlsson, Jenny M., Huang, Diana, Kimak, Mark A., Lawrence, Elizabeth C., Feingold, Eleanor, Meriney, Stephen D., Brufsky, Adam M., Ferrell, Robert E.

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Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin за авторством Izumi, Kosuke, Nakato, Ryuichiro, Zhang, Zhe, Edmondson, Andrew C., Noon, Sarah, Dulik, Matthew C., Rajagopalan, Ramkakrishnan, Venditti, Charles P., Gripp, Karen, Samanich, Joy, Zackai, Elaine H., Deardorff, Matthew A., Clark, Dinah, Allen, Julian L., Dorsett, Dale, Misulovin, Ziva, Komata, Makiko, Bando, Masashige, Kaur, Maninder, Katou, Yuki, Shirahige, Katsuhiko, Krantz, Ian D.

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USP7 acts as a molecular rheostat to promote WASH-dependent endosomal protein recycling and is mutated in a human neurodevelopmental disorder за авторством Hao, Yi-Heng, Fountain, Michael D., Tacer, Klementina Fon, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Rosenfeld, Jill A., Caignec, Cédric Le, Isidor, Bertrand, Krantz, Ian D., Noon, Sarah E., Pfotenhauer, Jean P., Morgan, Thomas M., Moran, Rocio, Pedersen, Robert C., Saenz, Margarita S., Schaaf, Christian P., Potts, Patrick Ryan

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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death за авторством Li, Mindy H., Abrudan, Jenica L., Dulik, Matthew C., Sasson, Ariella, Brunton, Joshua, Jayaraman, Vijayakumar, Dugan, Noreen, Haley, Danielle, Rajagopalan, Ramakrishnan, Biswas, Sawona, Sarmady, Mahdi, DeChene, Elizabeth T., Deardorff, Matthew A., Wilkens, Alisha, Noon, Sarah E., Scarano, Maria I., Santani, Avni B., White, Peter S., Pennington, Jeffrey, Conlin, Laura K., Spinner, Nancy B., Krantz, Ian D., Vetter, Victoria L.

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Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016 за авторством Kline, Antonie D., Krantz, Ian D., Deardorff, Matthew A., Shirahige, Katsuhiko, Dorsett, Dale, Gerton, Jennifer L., Wu, Meng, Mehta, Devanshi, Mills, Jason A., Carrico, Cheri S., Noon, Sarah, Herrera, Pamela S., Horsfield, Julia A., Bettale, Chiara, Morgan, Jeremy, Huisman, Sylvia A., Moss, Jo, McCleery, Joseph, Grados, Marco, Hansen, Blake D., Srivastava, Siddharth, Taylor-Snell, Emily, Kerr, Lynne M., Katz, Olivia, Calof, Anne L., Musio, Antonio, Egense, Alena, Haaland, Richard E.

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance за авторством Kaiser, Frank J., Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J., Fincher, Christopher T., Kaur, Maninder, Bando, Masashige, Amor, David J., Atwal, Paldeep S., Bahlo, Melanie, Bowman, Christine M., Bradley, Jacquelyn J., Brunner, Han G., Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A., Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C., Francey, Lauren J., Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D., Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M., Yntema, Helger, Innes, A. Micheil, Kline, Antonie D., Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B., Mannini, Linda, Mckee, Shane, Mehta, Sarju G., Micule, Ieva, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R., Moser, Joe-Ann S., Noon, Sarah E., Nozaki, Naohito, Nunes, Luis, Pappas, John G., Penney, Lynette S., Pérez-Aytés, Antonio, Petersen, Michael B., Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E., Schindeler, Karen L., Siu, Victoria M., Stark, Zornitza, Strom, Samuel P., Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C., Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J., Jackson, Laird G., Shirahige, Katsuhiko, Pié, Juan, Christianson, David W., Krantz, Ian D., Fitzpatrick, David R., Deardorff, Matthew A.

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