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机译:COG6中具有新型纯合的无纺布突变相关的性发展紊乱扩大了COG6-CDG的表型谱
Univ Hosp Modena Mother Child Dept Neonatol Unit Via Pozzo 71 I-41124 Modena Italy;
Univ Modena &
Reggio Emilia Dept Med &
Surg Sci Mother Children &
Adults Postgrad Sch Pediat;
Meyer Childrens Hosp Neurosci Dept Mol &
Cell Biol Lab Neurometab Dis Florence Italy;
Univ Hosp Modena Mother Child Dept Pediat Unit Modena Italy;
Univ Hosp Modena Mother Child Dept Obstet Gynecol Unit Modena Italy;
Univ Modena &
Reggio Emilia Dept Med &
Surg Sci Mother Children &
Adults Postgrad Sch Pediat;
Univ Hosp Modena Mother Child Dept Neonatol Unit Via Pozzo 71 I-41124 Modena Italy;
Meyer Childrens Hosp Neurosci Dept Mol &
Cell Biol Lab Neurometab Dis Florence Italy;
Univ Modena &
Reggio Emilia Dept Med &
Surg Sci Mother Children &
Adults Postgrad Sch Pediat;
Univ Hosp Modena Mother Child Dept Neonatol Unit Via Pozzo 71 I-41124 Modena Italy;
congenital disorders of glycosylation; conserved oligomeric Golgi complex; disorder of sexual differentiation;
机译:LHCGR的新型纯合非突变导致空卵泡综合征和46,XY性行为
机译:扩展MYBPC1表型谱:一种新型的纯合突变导致关节型多发性先天性
机译:SMG9缺乏症综合征由纯合的畸形变种引起的:扩大这种发育障碍的基因型和表型谱
机译:单纯性和多重自闭症谱系障碍的性别和复发比分析暗示特定性别等位基因为遗传机制
机译:机制的 单纯 自闭症 相关资产 表型异质
机译:心脏钠通道突变delQKP 1507-1509与LQT3的扩展表型谱传导障碍扩张型心肌病和青少年猝死的高发率有关
机译:从HDL到Banddos:快速扩张的CSF1R中突变引起的疾病的表型谱
机译:自闭症谱系障碍儿童焦虑障碍发展的前兆。