Výsledky vyhledávání - Noh, Grace

Clinical review of genetic epileptic encephalopathies Autor Noh, Grace J., Asher, Y. Jane Tavyev, Graham, John M.

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HSD10 disease in a female: A case report and review of literature Autor Upadia, Jariya, Walano, Nicolette, Noh, Grace S., Liu, Jiao, Li, Yuwen, Deputy, Stephen, Elliott, Lindsay T., Wong, Joaquin, Lee, Jennifer A., Caylor, Raymond C., Andersson, Hans C.

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Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive Autor Edvardson, Simon, Nicolae, Claudia M., Noh, Grace J., Burton, Jennifer E., Punzi, Giuseppe, Shaag, Avraham, Bischetsrieder, Jessica, De Grassi, Anna, Pierri, Ciro Leonardo, Elpeleg, Orly, Moldovan, George-Lucian

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Angiotensin II–accelerated atherosclerosis and aneurysm formation is attenuated in osteopontin-deficient mice Autor Bruemmer, Dennis, Collins, Alan R., Noh, Grace, Wang, Wei, Territo, Mary, Arias-Magallona, Sarah, Fishbein, Michael C., Blaschke, Florian, Kintscher, Ulrich, Graf, Kristof, Law, Ronald E., Hsueh, Willa A.

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Clinical and Radiographic Delineation of Bent Bone Dysplasia-FGFR2 Type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-Shaped Phalanges Autor Krakow, Deborah, Cohn, Daniel H., Wilcox, William R., Noh, Grace J., Raffel, Leslie J., Sarukhanov, Anna, Ivanova, Margarita H., Danielpour, Moise, Grange, Dorothy K., Elliott, Alison M., Bernstein, Jonathan A., Rimoin, David L., Merrill, Amy E., Lachman, Ralph S.

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Synthetic LXR ligand inhibits the development of atherosclerosis in mice Autor Joseph, Sean B., McKilligin, Elaine, Pei, Liming, Watson, Michael A., Collins, Alan R., Laffitte, Bryan A., Chen, Mingyi, Noh, Grace, Goodman, Joanne, Hagger, Graham N., Tran, Jonathan, Tippin, Tim K., Wang, Xuping, Lusis, Aldons J., Hsueh, Willa A., Law, Ronald E., Collins, Jon L., Willson, Timothy M., Tontonoz, Peter

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Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing Autor Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A., Lalani, Seema R., Rosenfeld, Jill A., Azamian, Mahshid S., Xia, Fan, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Noh, Grace J., Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E., Gavrilova, Ralitza, Mirzaa, Ghayda M., Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A., Ekici, Arif B., Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane

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Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia Autor Muir, Alison M., Gardner, Jennifer F., van Jaarsveld, Richard H., de Lange, Iris M., van der Smagt, Jasper J., Wilson, Golder N., Dubbs, Holly, Goldberg, Ethan M., Zitano, Lia, Bupp, Caleb, Martinez, Jose, Srour, Myriam, Accogli, Andrea, Alhakeem, Afnan, Meltzer, Meira, Gropman, Andrea, Brewer, Carole, Caswell, Richard C., Montgomery, Tara, McKenna, Caoimhe, McKee, Shane, Powell, Corinna, Vasudevan, Pradeep C., Brady, Angela F., Joss, Shelagh, Tysoe, Carolyn, Noh, Grace, Tarnopolsky, Mark, Brady, Lauren, Zafar, Muhammad, Schrier Vergano, Samantha A., Murray, Brianna, Sawyer, Lindsey, Hainline, Bryan E., Sapp, Katherine, DeMarzo, Danielle, Huismann, Darcy J., Wentzensen, Ingrid M., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rhodes, Lindsay, Dobyns, William B., Lecoquierre, Francois, Goldenberg, Alice, Polster, Tilman, Axer-Schaefer, Susanne, Platzer, Konrad, Klöckner, Chiara, Hoffman, Trevor L., MacArthur, Daniel G., O’Leary, Melanie C., VanNoy, Grace E., England, Eleina, Varghese, Vinod C., Mefford, Heather C.

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