机译:EED和EZH2组成型变体:一种扩大COHEN-GIBSON综合征表型的研究并用织布工综合征对比
St Georges Univ London Dept Clin Genet London England;
Inst Canc Res Div Genet &
Epidemiol Sutton Surrey England;
Inst Canc Res Div Clin Studies Sutton Surrey England;
Beaumont Hosp Dept Endocrinol Dublin Ireland;
Manchester Univ Hosp NHS Fdn Trust Manchester Ctr Genom Med Manchester Acad Hlth Sci Ctr;
Birmingham Womens &
Childrens NHS Fdn Trust Dept Clin Genet Birmingham W Midlands England;
Fdn IRCCS Ist Neurol C Besta Dev Neurol Unit Milan Italy;
Jena Univ Hosp Dept Neuropediat Jena Germany;
Birmingham Womens &
Childrens NHS Fdn Trust Dept Clin Genet Birmingham W Midlands England;
Tallaght Univ Hosp Dept Paediat Growth Diabet &
Endocrinol Dublin Ireland;
Monash Hlth Dept Genet Melbourne Vic Australia;
Osped Maggiore Policlin Fdn IRCCS Ca Granda Pediat Highly Intens Care Unit Milan Italy;
Fdn IRCCS Ist Neurol C Besta Dev Neurol Unit Milan Italy;
Tallaght Univ Hosp Dept Paediat Growth Diabet &
Endocrinol Dublin Ireland;
Beaumont Hosp Dept Endocrinol Dublin Ireland;
Monash Hlth Dept Genet Melbourne Vic Australia;
Murdoch Childrens Res Inst Victorian Clin Genet Serv Melbourne Vic Australia;
St Georges Univ London Dept Clin Genet London England;
Cohen-Gibson; EED; EZH2; intellectual disability; overgrowth; Weaver;
机译:EED和EZH2组成型变体:一种扩大COHEN-GIBSON综合征表型的研究并用织布工综合征对比
机译:Weaver综合征和EZH2突变:阐明临床表型
机译:Weaver综合征和EZH2突变:阐明临床表型
机译:奎尼丁对人心室短QT综合征变异2的影响:建模和模拟研究
机译:小儿种芽髓倾向于骨髓性综合征,初步评估和管理的专家指导和SAMD9和SAMD9L变体的重要性,以及数据库开发对这些罕见综合征的重要性
机译:生长迟缓严重身材矮小的儿童在EZH2中同时发生母本遗传的DNMT3A复制和母本遗传的致病变异:非典型Weaver综合征或DNMT3A剂量效应的证据?
机译:韦弗综合症和EZH2突变:阐明临床表型