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Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome Chorin, Odelia; Greenbaum, Lior; Lev-Hochberg, Shelly; Feinstein-Goren, Neta; Eliyahu, Aviva; Shani, Hagit; Pras, Elon; Weissbach, Tal; Bolkier, Yoav; Heimer, Gali; Lev, Dorit; Michelson, Marina; Regev, Miriam; Josefsberg, Sagi; Batzir, Nurit Assia; Shalata, Adel; Spiegel, Ronen; Segel, Reeval; Lobel, Orit; Abu-Libdeh, Bassam; Shohat, Mordechai; Frydman, Moshe; Hady-Cohen, Ronen; Pode-Shakked, Ben; Rein-Rothschild, Annick 分享 收藏
EEFSEC 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. 分享 收藏
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Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement DNA甲基化分析在遗传未解决的小儿癫痫中的诊断效用和CHD2表签名精化 Laflamme, Christy W.; Rastin, Cassandra; Sengupta, Soham; Pennington, Helen E.; Russ-Hall, Sophie J.; Schneider, Amy L.; Bonkowski, Emily S.; Almanza Fuerte, Edith P.; Allan, Talia J.; Zalusky, Miranda Perez-Galey; Goffena, Joy; Gibson, Sophia B.; Nyaga, Denis M.; Lieffering, Nico; Hebbar, Malavika; Walker, Emily V.; Darnell, Daniel; Olsen, Scott R.; Kolekar, Pandurang; Djekidel, Mohamed Nadhir; Rosikiewicz, Wojciech; Mcconkey, Haley; Kerkhof, Jennifer; Levy, Michael A.; Relator, Raissa; Lev, Dorit; Lerman-Sagie, Tally; Park, Kristen L.; Alders, Marielle; Cappuccio, Gerarda; Chatron, Nicolas; Demain, Leigh; Genevieve, David; Lesca, Gaetan; Roscioli, Tony; Sanlaville, Damien; Tedder, Matthew L.; Gupta, Sachin; Jones, Elizabeth A.; Weisz-Hubshman, Monika; Ketkar, Shamika; Dai, Hongzheng; Worley, Kim C.; Rosenfeld, Jill A.; Chao, Hsiao-Tuan; Neale, Geoffrey; Carvill, Gemma L.; Wang, Zhaoming; Berkovic, Samuel F.; Sadleir, Lynette G.; Miller, Danny E.; Scheffer, Ingrid E.; Sadikovic, Bekim; Mefford, Heather C. 分享 收藏
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Comparison of the prenatal imaging findings at the second and third trimester of pregnancy to the autopsy findings in fetuses with brain anomalies Shariv, A.; Gindes, L.; Leibovitz, Z.; Kidron, D.; Haratz, K. K.; Ben-Sira, L.; Gafner, M.; Arad, A.; Lev, D.; Schreiber, L.; Malinger, G.; Sagie, T. 分享 收藏
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation Gafner, M.; Garel, C.; Leibovitz, Z.; Valence, S.; Haratz, K. Krajden; Oegema, R.; Mancini, G. M. S.; Heron, D.; Bueltmann, E.; Burglen, L.; Rodriguez, D.; Huisman, T. A. G. M.; Lequin, M. H.; Arad, A.; Kidron, D.; Muqary, M.; Gindes, L.; Lev, D.; Boltshauser, E.; Lerman-Sagie, T. 分享 收藏
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature van 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 分享 收藏
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A Pavlova, 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. 分享 收藏
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Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy Yechieli, Michal; Gulsuner, Suleyman; Ben-Pazi, Hilla; Fattal, Aviva; Aran, Adi; Kuzminsky, Alla; Sagi, Liora; Guttman, Dafna; Schneebaum Sender, Nira; Gross-Tsur, Varda; Klopstock, Tehila; Walsh, Tom; Renbaum, Paul; Zeligson, Sharon; Shemer Meiri, Lilach; Lev, Dorit; Shmueli, Dorit; Blumkin, Luba; Lahad, Amnon; King, Mary-Claire; Levy, Ephrat Lahad; Segel, Reeval 分享 收藏
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White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology Zerem, Ayelet; Ben-Sira, Liat; Vigdorovich, Nitzan; Leibovitz, Zvi; Fisher, Yael; Schiffmann, Raphael; Grishchuk, Yulia; Misko, Albert L.; Orenstein, Naama; Lev, Dorit; Lerman-Sagie, Tally; Kidron, Debora 分享 收藏
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Stamberger, 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. 分享 收藏
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