Ohcanbohtosat - Pang, Lewis
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Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K. Dahkki Pang, Lewis, Colclough, Kevin C., Shepherd, Maggie H., McLean, Joanne, Pearson, Ewan R., Ellard, Sian, Hattersley, Andrew T., Shields, Beverley M.
Almmustuhtton 2022Teaksta -
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Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders Dahkki Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Ruivenkamp, Claudia A.L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.
Almmustuhtton 2021Teaksta -
3
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders Dahkki Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Ruivenkamp, Claudia A.L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.
Almmustuhtton 2021Teaksta -
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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome Dahkki Weerts, Marjolein J. A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A. L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M. P. C. D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, Mirzaa, Ghayda M., Timms, Andrew E., Scheck, Joshua, Elting, Mariet W., Polstra, Abeltje M., Schenck, Lauren, Ruzhnikov, Maura R. Z., Vetro, Annalisa, Montomoli, Martino, Guerrini, Renzo, Koboldt, Daniel C., Mosher, Theresa Mihalic, Pastore, Matthew T., McBride, Kim L., Peng, Jing, Pan, Zou, Willemsen, Marjolein, Koning, Susanne, Turnpenny, Peter D., de Vries, Bert B. A., Gilissen, Christian, Pfundt, Rolph, Lees, Melissa, Braddock, Stephen R., Klemp, Kara C., Vansenne, Fleur, van Gijn, Marielle E., Quindipan, Catherine, Deardorff, Matthew A., Hamm, J. Austin, Putnam, Abbey M., Baud, Rebecca, Walsh, Laurence, Lynch, Sally A., Baptista, Julia, Person, Richard E., Monaghan, Kristin G., Crunk, Amy, Keller-Ramey, Jennifer, Reich, Adi, Elloumi, Houda Zghal, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Haghshenas, Sadegheh, Maroofian, Reza, Sadikovic, Bekim, Banka, Siddharth, Arold, Stefan T., Barakat, Tahsin Stefan
Almmustuhtton 2021Teaksta