未登录A mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease
Yam, Mor; Nassir, Jolan; Galber, Danielle; Quinn, Shir; Gal, Roni; Ovadia, Mor; Bordeynik-Cohen, Mor; Peled, Eden; Makinson, Christopher D.; Hausman-Kedem, Moran; Fattal-Valevski, Aviva; Frankel, Wayne N.; Avraham, Karen B.; Rubinstein, Moran .png)
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收藏分享 收藏 Neurodevelopmental outcome of perinatal intracranial haemorrhage in patients born at term: A prospective studyLibzon, Stephanie; Shiran, Shelly I.; Fattal-Valevski, Aviva; Schneebaum-Sender, Nira; Roth, Jonathan; Constantini, Shlomi; Malinger, Gustavo; Haratz, Karina Krajden; Sira, Liat Ben; Hausman-Kedem, Moran 分享 收藏 Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisationEskin-Schwartz, Marina; Seraidy, Shaikah; Paz, Eyal; Molhem, Maism; Ranza, Emmanuelle; Antonarakis, Stylianos E.; Blanc, Xavier; Herman, Kristin; Benko, William S.; Libzon, Stephanie; Ben Sira, Liat; Fattal-Valevski, Aviva; Dolgin, Vadim; Birk, Ohad S.; Kessel, Amit; Bross, Peter; Weiss, Celeste; Azem, Abdussalam; Zerem, Ayelet 分享 收藏 分享 收藏 Real-Life Outcome After Gene Replacement Therapy for Spinal Muscular Atrophy: A Multicenter ExperienceLatzer, Itay Tokatly; Sagi, Liora; Lavi, Revital; Aharoni, Sharon; Bistritzer, Jacob; Noyman, Iris; Ginsburg, Mira; Lev-Or, Angela; Katzenellenbogen, Sharona; Nevo, Yoram; Fattal-Valevski, Aviva 分享 收藏 分享 收藏 Molecular diagnosis of 405 individuals with autism spectrum disorderMiyake, Noriko; Tsurusaki, Yoshinori; Fukai, Ryoko; Kushima, Itaru; Okamoto, Nobuhiko; Ohashi, Kei; Nakamura, Kazuhiko; Hashimoto, Ryota; Hiraki, Yoko; Son, Shuraku; Kato, Mitsuhiro; Sakai, Yasunari; Osaka, Hitoshi; Deguchi, Kimiko; Matsuishi, Toyojiro; Takeshita, Saoko; Fattal-Valevski, Aviva; Ekhilevitch, Nina; Tohyama, Jun; Yap, Patrick; Keng, Wee Teik; Kobayashi, Hiroshi; Takubo, Keiyo; Okada, Takashi; Saitoh, Shinji; Yasuda, Yuka; Murai, Toshiya; Nakamura, Kazuyuki; Ohga, Shouichi; Matsumoto, Ayumi; Inoue, Ken; Saikusa, Tomoko; Hershkovitz, Tova; Kobayashi, Yu; Morikawa, Mako; Ito, Aiko; Hara, Toshiro; Uno, Yota; Seiwa, Chizuru; Ishizuka, Kanako; Shirahata, Emi; Fujita, Atsushi; Koshimizu, Eriko; Miyatake, Satoko; Takata, Atsushi; Mizuguchi, Takeshi; Ozaki, Norio; Matsumoto, Naomichi 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Effect of natalizumab treatment on the rate of No Evidence of Disease Activity in young adults with multiple sclerosis in relation to pubertal stageMenascu, Shay; Fattal-Valevski, Aviva; Vaknin-Dembinsky, Adi; Milo, Ron; Geva, Keren; Magalashvili, David; Dolev, Mark; Flecther, Shlomo; Kalron, Alon; Miron, Shmulik; Hoffmann, Chen; Aloni, Roy; Gurevich, Michael; Achiron, Anat 分享 收藏 分享 收藏 Further Delineation of the Clinical and Pathologic Features of HIKESHI- Related Hypomyelinating LeukodystrophyHelman, Guy; Zerem, Ayelet; Almad, Akshata; Hacker, Julia L.; Woidill, Sarah; Sase, Sunetra; LeFevre, Alexandra N.; Ekstein, Josef; Johansson, Martin M.; Stutterd, Chloe A.; Taft, Ryan J.; Simons, Cas; Grinspan, Judith B.; Pizzino, Amy; Schmidt, Johanna L.; Harding, Brian; Hirsch, Yoel; Viaene, Angela N.; Fattal-Valevski, Aviva; Vanderver, Adeline 分享 收藏 Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestationsHausman-Kedem, Moran; Ben-Sira, Liat; Kidron, Debora; Ben-Shachar, Shay; Straussberg, Rachel; Marom, Daphna; Ponger, Penina; Bar-Shira, Anat; Malinger, Gustavo; Fattal-Valevski, Aviva 分享 收藏 Monogenic Causes of Apparently Idiopathic Perinatal Intracranial HemorrhageHausman-Kedem, Moran; Malinger, Gustavo; Modai, Shira; Kushner, Steven A.; Shiran, Shelly, I; Ben-Sira, Liat; Roth, Jonathan; Constantini, Shlomi; Fattal-Valevski, Aviva; Ben-Shachar, Shay 分享 收藏 分享 收藏 Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencingIwama, Kazuhiro; Mizuguchi, Takeshi; Takeshita, Eri; Nakagawa, Eiji; Okazaki, Tetsuya; Nomura, Yoshiko; Iijima, Yoshitaka; Kajiura, Ichiro; Sugai, Kenji; Saito, Takashi; Sasaki, Masayuki; Yuge, Kotaro; Saikusa, Tomoko; Okamoto, Nobuhiko; Takahashi, Satoru; Amamoto, Masano; Tomita, Ichiro; Kumada, Satoko; Anzai, Yuki; Hoshino, Kyoko; Fattal-Valevski, Aviva; Shiroma, Naohide; Ohfu, Masaharu; Moroto, Masaharu; Tanda, Koichi; Nakagawa, Tomoko; Sakakibara, Takafumi; Nabatame, Shin; Matsuo, Muneaki; Yamamoto, Akiko; Yukishita, Shoko; Inoue, Ken; Waga, Chikako; Nakamura, Yoko; Watanabe, Shoko; Ohba, Chihiro; Sengoku, Toru; Fujita, Atsushi; Mitsuhashi, Satomi; Miyatake, Satoko; Takata, Atsushi; Miyake, Noriko; Ogata, Kazuhiro; Ito, Shuichi; Saitsu, Hirotomo; Matsuishi, Toyojiro; Goto, Yu-ichi; Matsumoto, Naomichi 分享 收藏 Thiamine deficiency disorders: diagnosis, prevalence, and a roadmap for global control programs硫胺素缺乏症: 诊断，患病率和全球控制计划的路线图Whitfield, Kyly C.; Bourassa, Megan W.; Adamolekun, Bola; Bergeron, Gilles; Bettendorff, Lucien; Brown, Kenneth H.; Cox, Lorna; Fattal-Valevski, Aviva; Fischer, Philip R.; Frank, Elizabeth L.; Hiffler, Laurent; Hlaing, Lwin Mar; Jefferds, Maria Elena; Kapner, Hallie; Kounnavong, Sengchanh; Mousavi, Maral P. S.; Roth, Daniel E.; Tsaloglou, Maria-Nefeli; Wieringa, Frank; Combs, Gerald F. 分享 收藏 
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