检索结果 - Minks, Kelly Q.

Treatment Responsiveness in KCNT1-Related Epilepsy 由 Fitzgerald, Mark P., Fiannacca, Martina, Smith, Douglas M., Gertler, Tracy S., Gunning, Boudewijn, Syrbe, Steffen, Verbeek, Nienke, Stamberger, Hannah, Weckhuysen, Sarah, Ceulemans, Berten, Schoonjans, An-Sofie, Rossi, Massimiliano, Demarquay, Geneviève, Lesca, Gaetan, Olofsson, Kern, Koolen, D. A., Hornemann, Frauke, Baulac, Stephanie, Rubboli, Guido, Minks, Kelly Q., Lee, Bohoon, Helbig, Ingo, Dlugos, Dennis, Møller, Rikke S., Bearden, David

获取全文 获取全文 获取全文

Expanding the neurodevelopmental phenotype of PURA syndrome 由 Lee, Bo Hoon, Reijnders, Margot R.F., Abubakare, Oluwatobi, Tuttle, Emily, Lape, Brynn, Minks, Kelly Q., Stodgell, Christopher, Bennetto, Loisa, Kwon, Jennifer, Fong, Chin-To, Gripp, Karen W., Marsh, Eric D., Smith, Wendy E., Huq, Ahm M., Coury, Stephanie A., Tan, Wen-Hann, Solis, Orestes, Mehta, Rupal I, Leventer, Richard J., Baralle, Diana, Hunt, David, Paciorkowski, Alex R.

获取全文 获取全文 获取全文

Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN) 由 Gregory, Allison, Lotia, Mitesh, Jeong, Suh Young, Fox, Rachel, Zhen, Dolly, Sanford, Lynn, Hamada, Jeff, Jahic, Amir, Beetz, Christian, Freed, Alison, Kurian, Manju A., Cullup, Thomas, van der Weijden, Marlous C. M., Nguyen, Vy, Setthavongsack, Naly, Garcia, Daphne, Krajbich, Victoria, Pham, Thao, Woltjer, Randy, George, Benjamin P., Minks, Kelly Q., Paciorkowski, Alexander R., Hogarth, Penelope, Jankovic, Joseph, Hayflick, Susan J.

获取全文 获取全文 获取全文

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders 由 Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Banka, Siddharth, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Berland, Siren, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Chenbhanich, Jirat, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Le Guyader, Gwenael, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Randrianaivo, Hanitra, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Kreienkamp, Hans-Jürgen, Lessel, Davor

获取全文 获取全文 获取全文