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SaveEEFSEC deficiency: A selenopathy with early-onset neurodegeneration
Laugwitz, Lucia; Buchert, Rebecca; Olguin, Patricio; Estiar, Mehrdad A.; Atanasova, Mihaela; Marques, Wilson, Jr.; Enssle, Joerg; Marsden, Brian; Aviles, Javiera; Gonzalez-Gutierrez, Andres; Candia, Noemi; Fabiano, Marietta; Morlot, Susanne; Peralta, Susana; Groh, Alisa; Schillinger, Carmen; Kuehn, Carolin; Sofan, Linda; Sturm, Marc; Bender, Benjamin; Tomaselli, Pedro J.; Diebold, Uta; Mueller, Amelie J.; Spranger, Stephanie; Fuchs, Maren; Freua, Fernando; Melo, Uira Souto; Mattas, Lauren; Ashtiani, Setareh; Suchowersky, Oksana; Groeschel, Samuel; Rouleau, Guy A.; Yosovich, Keren; Michelson, Marina; Leibovitz, Zvi; Bilal, Muhammad; Uctepe, Eyyup; Yesilyurt, Ahmet; Ozdogan, Orhan; Celik, Tamer; Kraegeloh-Mann, Ingeborg; Riess, Olaf; Rosewich, Hendrik; Umair, Muhammad; Lev, Dorit; Zuchner, Stephan; Schweizer, Ulrich; Lynch, David S.; Gan-Or, Ziv; Hack, Tobias B. Share Save Share Save Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signaturevan Jaarsveld, Richard H.; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A.; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C.; Ciolfi, Andrea; van Essen, Ton A. J.; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M.; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A.; Lewis, M. E. Suzanne; Lichty, Angie; Mannens, Marcel M. A. M.; Matsumoto, Naomichi; Maya, Idit; McConkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A.; Yosovich, Keren; Yuskaitis, Christopher J.; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Marielle; Oegema, Renske Share Save Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33APavlova, Elena, V; Lev, Dorit; Michelson, Marina; Yosovich, Keren; Michaeli, Hila Gur; Bright, Nicholas A.; Manna, Paul T.; Dickson, Veronica Kane; Tylee, Karen L.; Church, Heather J.; Luzio, J. Paul; Cox, Timothy M. Share Save Expanding the natural history of CASK-related disorders to the prenatal periodGafner, Michal; Boltshauser, Eugen; D'Abrusco, Fulvio; Battini, Roberta; Romaniello, Romina; D'Arrigo, Stefano; Zanni, Ginevra; Leibovitz, Zvi; Yosovich, Keren; Lerman-Sagie, Tally Share Save NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsStamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E. Share Save Share Save Share Save Share Save Share Save 
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