Výsledky vyhledávání - Yuen, Amy

Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature Autor Simon, Julie, Stoll, Katie, Fick, Roger, Mott, Jared, Lawson‐Yuen, Amy

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Direct medical cost of newly diagnosed stable coronary artery disease in Hong Kong Autor Lee, Vivian W Y, Lam, Yat Yin, Yuen, Amy C M, Cheung, Shuk Yan, Yu, Cheuk-Man, Yan, Bryan P Y

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Ube3a mRNA and protein expression are not decreased in Mecp2(R168X) mutant mice Autor Lawson-Yuen, Amy, Liu, Daniel, Han, Liqun, Jiang, Zhichun I., Tsai, Guochuan E., Basu, Alo C., Picker, Jonathan, Feng, Jiamin, Coyle, Joseph T.

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Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis Autor De Smit, Elisabeth, Lukowski, Samuel W., Anderson, Lisa, Senabouth, Anne, Dauyey, Kaisar, Song, Sharon, Wyse, Bruce, Wheeler, Lawrie, Chen, Christine Y., Cao, Khoa, Wong Ten Yuen, Amy, Shuey, Neil, Clarke, Linda, Lopez Sanchez, Isabel, Hung, Sandy S. C., Pébay, Alice, Mackey, David A., Brown, Matthew A., Hewitt, Alex W., Powell, Joseph E.

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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients Autor Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S., Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I., Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G., Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O. M., Wilson, Louise, Yuen, Amy, Study, DDD, Low, Karen J., Newbury-Ecob, Ruth A.

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DNM1 encephalopathy: A new disease of vesicle fission Autor von Spiczak, Sarah, Helbig, Katherine L., Shinde, Deepali N., Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E., Sarco, Dean P., Kaplan, Richard A., Dlugos, Dennis J., Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R., Cervenka, Mackenzie C., Cohen, Julie S., McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D., Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S., Palmer, Elizabeth, Lawson, John A., Campbell, Colleen A., Joshi, Charuta N., Kolbe, Diana L., Hollingsworth, Georgie, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E., Pena, Sérgio D.J., Sisodiya, Sanjay M., Helbig, Ingo

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Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study Autor van Geest, Ferdy S, Groeneweg, Stefan, van den Akker, Erica L T, Bacos, Iuliu, Barca, Diana, van den Berg, Sjoerd A A, Bertini, Enrico, Brunner, Doris, Brunetti-Pierri, Nicola, Cappa, Marco, Cappuccio, Gerarda, Chatterjee, Krishna, Chesover, Alexander D, Christian, Peter, Coutant, Régis, Craiu, Dana, Crock, Patricia, Dewey, Cheyenne, Dica, Alice, Dimitri, Paul, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, Garibaldi, Luigi R, George, Belinda, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, Lawson-Yuen, Amy, Linder-Lucht, Michaela, Lyons, Greta, Monti Lora, Felipe, Moran, Carla, Müller, Katalin E, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, de Rijke, Yolanda B, Seckold, Rowen, Menevşe, Tuba Seven, Simm, Peter, Simon, Anna, Spada, Marco, Stoupa, Athanasia, Szeifert, Lilla, Tonduti, Davide, van Toor, Hans, Turan, Serap, Vanderniet, Joel, de Waart, Monique, van der Wal, Ronald, van der Walt, Adri, van Wermeskerken, Anne-Marie, Wierzba, Jolanta, Zibordi, Federica, Zung, Amnon, Peeters, Robin P, Visser, W Edward

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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study Autor Groeneweg, Stefan, van Geest, Ferdy S, Abaci, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautem, Armour, Christine, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castaglioni, Claudia, Castellotti, Barbara, Chatterjee, Krishna, de Coo, Irenaeus FM, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein HG, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Lorea, Cláudia Fernandes, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Koolen, David, Konrad, Daniel, Krude, Heiko, Lawson–Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, Lourenço, Charles Marques, McGowan, Anne, Mericq, Veronica, Lora, Felipe Monti, Moran, Carla, Müller, Katalin E, de Oliveira Poswar, Fabiano, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba Seven, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou AM, Stoupa, Athanasia, Subramanian, Gopinath M, Tonduti, Davide, Turan, Serap, den Uil, Corstiaan A, Vanderniet, Joel, van der Walt, Adri, Wémeau, Jean-Louis, Wierzba, Jolante, de Wit, Marie-Claire Y, Wolf, Nicole I, Wurm, Michael, Zibordi, Federica, Zung, Amnon, Zwaveling-Soonawala, Nitash, Visser, W Edward

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