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机译:影响SWI / SNF复合体六种组分的突变的临床相关性:21例患者的详细描述及文献综述
Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan;
Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child;
Division of Medical Genetics Saitama Children's Medical Center Saitama Japan;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan;
Division of Pediatrics Japanese Red Cross Medical Center Tokyo Japan;
Division of Pediatrics Japanese Red Cross Medical Center Tokyo Japan;
Department of Genetic Counseling Graduate School of Humanities and Sciences Ochanomizu University;
Division of Pediatrics Yamagata Prefectural Shinjo Hospital Shinjo Japan;
Division of Pediatrics Yamagata Prefectural and Sakata Municipal Hospital Organization Nihon-Kai;
Department of Pediatrics Yamagata University Faculty of Medicine Yamagata Japan;
Hiroshima Municipal Center for Child Health and Development Hiroshima Japan;
Department of Pediatrics Jichi Medical University Shimotsuke Japan;
Genetics Division Department of Pediatrics LAC+USC Medical Center Keck School of Medicine;
Department of Pediatrics Dokkyo Medical University Koshigaya Hospital Koshigaya Japan;
Department of Pediatrics Dokkyo Medical University Koshigaya Hospital Koshigaya Japan Nakagawa;
Department of Pediatrics Dokkyo Medical University Koshigaya Hospital Koshigaya Japan;
Research Institute of Personalized Health Sciences Health Sciences University of Hokkaido Tobetsu;
Research Institute of Personalized Health Sciences Health Sciences University of Hokkaido Tobetsu;
Department of Pediatrics Central Hospital Aichi Human Service Center Kasugai Japan;
Department of Medical Genetics Faculty of Medicine University of the Ryukyus Nishihara Japan;
Department of Medical Genetics Faculty of Medicine University of the Ryukyus Nishihara Japan;
Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan;
Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan;
Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan;
ARID1A; ARID1B; Coffin-Siris syndrome; Intellectual disability (ID); Nicolaides-Baraitser syndrome; SMARCA2; SMARCA4; SMARCB1; SMARCE1; SWI/SNF complex;
机译:影响SWI / SNF复合体六种组分的突变的临床相关性:21例患者的详细描述及文献综述
机译:SNF11,酵母SNF-SWI复合物的新成分,与SNF2的保守区域相互作用。
机译:涉及BAF(mSWI / SNF)复合体的棺材-Siris综合征和相关疾病:使用下一代测序的历史回顾和最新进展(第166卷,第241页,2016)
机译:考虑复杂性:在预测性维护中对多组件系统进行结构化文献综述
机译:肿瘤相关的INI1 / SMARCB1突变的肿瘤发生机制,INI / SMARCB1是SWI / SNF染色质重塑复合体的组成部分
机译:SNF11是酵母SNF-SWI复合物的新成分可与SNF2的保守区域相互作用。
机译:SNF11是酵母SNF-SWI复合物的新成分,可与SNF2的保守区域相互作用。