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收藏分享 收藏 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 分享 收藏 分享 收藏 分享 收藏 Expression of concern for global biomedical research by the human genome organization (HUGO)人类基因组组织（HUGO）对全球生物医学研究的关注声明Hamosh, Ada; Arzuaga, Fabiana; Avraham, Karen B.; Bin Alwi, Zilfalil; Bowcock, Anne; Burn, Sir John; Carninci, Piero; Dandara, Collet; Lopes-Cendes, Iscia; Mutesa, Leon; Majumder, Partha P.; Reichardt, Juergen K., V; Veltman, Joris A. 分享 收藏 Shared and organ-specific gene-expression programs during the development of the cochlea and the superior olivary complexBordeynik-Cohen, Mor; Sperber, Michal; Ebbers, Lena; Messika-Gold, Naama; Krohs, Constanze; Koffler-Brill, Tal; Noy, Yael; Elkon, Ran; Nothwang, Hans Gerd; Avraham, Karen B. 分享 收藏 SMARCA4 mutation causes human otosclerosis and a similar phenotype in miceSMARCA4突变导致人类耳硬化症和小鼠的相似表型Drabkin, Max; Jean, Matan M.; Noy, Yael; Halperin, Daniel; Yogev, Yuval; Wormser, Ohad; Proskorovski-Ohayon, Regina; Dolgin, Vadim; Levaot, Noam; Brumfeld, Vlad; Ovadia, Shira; Kishner, Mor; Kazenell, Udi; Avraham, Karen B.; Shelef, Ilan; Birk, Ohad S. 分享 收藏 Repair of noise-induced damage to stereocilia F-actin cores is facilitated by XIRP2 and its novel mechanosensor domainWagner, Elizabeth L.; Im, Jun-Sub; Sala, Stefano; Nakahata, Maura, I; Imbery, Terence E.; Li, Sihan; Chen, Daniel; Nimchuk, Katherine; Noy, Yael; Archer, David W.; Xu, Wenhao; Hashisaki, George; Avraham, Karen; Oakes, Patrick; Shin, Jung-Bum 分享 收藏 分享 收藏 分享 收藏 分享 收藏 A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestationFrohne, Alexandra; Koenighofer, Martin; Cetin, Hakan; Nieratschker, Michael; Liu, David T.; Laccone, Franco; Neesen, Juergen; Nemec, Stefan F.; Schwarz-Nemec, Ursula; Schoefer, Christian; Avraham, Karen B.; Frei, Klemens; Grabmeier-Pfistershammer, Katharina; Kratzer, Bernhard; Schmetterer, Klaus; Pickl, Winfried F.; Parzefall, Thomas 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase genePater, Justin A.; Penney, Cindy; O'Rielly, Darren D.; Griffin, Anne; Kamal, Lara; Brownstein, Zippora; Vona, Barbara; Vinkler, Chana; Shohat, Mordechai; Barel, Ortal; French, Curtis R.; Singh, Sushma; Werdyani, Salem; Burt, Taylor; Abdelfatah, Nelly; Houston, Jim; Doucette, Lance P.; Squires, Jessica; Glaser, Fabian; Roslin, Nicole M.; Vincent, Daniel; Marquis, Pascale; Woodland, Geoffrey; Benoukraf, Touati; Hawkey-Noble, Alexia; Avraham, Karen B.; Stanton, Susan G.; Young, Terry-Lynn 分享 收藏 Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing lossPatel, Mayher J.; DiStefano, Marina T.; Oza, Andrea M.; Hughes, Madeline Y.; Wilcox, Emma H.; Hemphill, Sarah E.; Cushman, Brandon J.; Grant, Andrew R.; Siegert, Rebecca K.; Shen, Jun; Chapin, Alex; Boczek, Nicole J.; Schimmenti, Lisa A.; Nara, Kiyomitsu; Kenna, Margaret; Azaiez, Hela; Booth, Kevin T.; Avraham, Karen B.; Kremer, Hannie; Griffith, Andrew J.; Rehm, Heidi L.; Amr, Sami S.; Abou Tayoun, Ahmad N. 分享 收藏 分享 收藏 United by Hope, Divided by Access: Country Mapping of COVID-19 Information Accessibility and Its Consequences on Pandemic Eradication因希望而团结，按访问划分: 新型冠状病毒肺炎信息可访问性的国家地图及其对消除大流行的影响Dror, Amiel A.; Morozov, Nicole G.; Layous, Eli; Mizrachi, Matti; Daoud, Amani; Eisenbach, Netanel; Rayan, Doaa; Kaykov, Edward; Marei, Hesham; Barhum, Masad; Srouji, Samer; Avraham, Karen B.; Sela, Eyal 分享 收藏 
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