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机译:N-cadherin的De Novo致病变体导致患有语料库,轴突,心脏,眼部和生殖器缺损的综合征神经发育障碍
McGill Univ Div Pediat Neurol Dept Pediat Montreal PQ H4A 3J1 Canada;
Clin Res Inst Montreal Montreal PQ H2W 1R7 Canada;
McGill Univ Hlth Ctr Res Inst Montreal PQ H4A 3J1 Canada;
McGill Univ Hlth Ctr Res Inst Montreal PQ H4A 3J1 Canada;
Montreal Neurol Inst McGill Univ Montreal PQ H3A 2B4 Canada;
Univ Zurich Inst Med Genet CH-8952 Schlieren Switzerland;
Univ Zurich Inst Med Genet CH-8952 Schlieren Switzerland;
Univ Zurich Inst Med Genet CH-8952 Schlieren Switzerland;
Brigham &
Womens Hosp Boston MA 02115 USA;
Brigham &
Womens Hosp Boston MA 02115 USA;
Brigham &
Womens Hosp Boston MA 02115 USA;
Duke Univ Div Med Genet Dept Pediat Durham NC 27707 USA;
Duke Univ Dept Ophthalmol Med Ctr Durham NC 27710 USA;
Univ Cincinnati Cincinnati Childrens Hosp Med Ctr Div Human Genet Coll Med Cincinnati OH 45229;
Univ Cincinnati Cincinnati Childrens Hosp Med Ctr Div Human Genet Coll Med Cincinnati OH 45229;
Ctr Hosp Univ Bordeaux F-33076 Bordeaux France;
Ctr Hosp Univ Bordeaux F-33076 Bordeaux France;
McGill Univ Dept Expt Med Montreal PQ H4A 3J1 Canada;
McGill Univ Dept Expt Med Montreal PQ H4A 3J1 Canada;
Clin Res Inst Montreal Montreal PQ H2W 1R7 Canada;
McGill Univ Div Pediat Neurol Dept Pediat Montreal PQ H4A 3J1 Canada;
机译:N-cadherin的De Novo致病变体导致患有语料库,轴突,心脏,眼部和生殖器缺损的综合征神经发育障碍
机译:MAB21L1功能丧失导致综合征神经发育障碍具有独特的小脑,眼镜,颅面和生殖器特征(COFG综合征)
机译:与Novo SCN3A病原变异相关的神经发育障碍:两个新病例和文献审查(VOL 42,PG 211,2020)
机译:时间加工和神经发育障碍:从注意力缺陷/多动障碍,自闭症谱系障碍和22q11.2删除综合征的见解。
机译:N钙粘蛋白的从头致病性变异导致Corp体轴突心脏眼部和生殖器缺陷的综合征性神经发育障碍
机译:N-Cadherin的De Novo致病变体导致患有语料库胼um,轴突,心脏,眼和生殖器缺陷的综合征神经发育障碍