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机译:由两种亚洲儿童的新型EFTUD2剪接部位变体引起的Mangibulofaceal缺血性愈合型
Univ Hong Kong Clin Genet Serv Dept Hlth Hong Kong Hong Kong Peoples R China;
Univ Hong Kong Clin Genet Serv Dept Hlth Hong Kong Hong Kong Peoples R China;
INSERM Lab Embryol &
Genet Human Malformat UMR 1163 Paris France;
Univ Hong Kong Dept Paediat &
Adolescent Med Hong Kong Hong Kong Peoples R China;
INSERM Lab Embryol &
Genet Human Malformat UMR 1163 Paris France;
Univ Hong Kong Dept Surg Hong Kong Hong Kong Peoples R China;
INSERM Lab Embryol &
Genet Human Malformat UMR 1163 Paris France;
Univ Hong Kong Dept Paediat &
Adolescent Med Hong Kong Hong Kong Peoples R China;
Univ Hong Kong Clin Genet Serv Dept Hlth Hong Kong Hong Kong Peoples R China;
Murdoch Childrens Res Inst Victorian Clin Genet Serv Murdoch WA 3052 Australia;
elongation factor Tu GTP-binding domain containing 2; facial dysostosis; mandibulofacial dysostosis with microcephaly; mandibulofacial dysostosis type Guion-Almeida;
机译:由两种亚洲儿童的新型EFTUD2剪接部位变体引起的Mangibulofaceal缺血性愈合型
机译:波兰人因EFFTD2基因突变导致食管闭锁和胆管闭锁的下颌面部发育不良型Guion-Almeida患者的表型分析
机译:用新颖的ETFUD2剪接变体患者P269患者患者的免疫表型 - Almeida型
机译:II型G蛋白偶联受体(VPAC2)的功能性接头变体用于小鼠和人淋巴细胞中的血管活性肠肽
机译:颅面疾病下颌面部发育不良的酵母模型Guion Almeida类型和烧伤McKeown综合征
机译:EFTUD2的新型剪接位点病原体变异与韩国下颌面部骨质疏松症伴小头畸形和颅外症状相关。
机译:EFTUD2的新型剪接位点致病变体与韩国微术和颅外症状的曼迪霉菌性缺陷有关