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[期刊论文] 作者：Ying GAO, Jin-li BAI, Xiao-yan,
来源：Journal of Zhejiang University-Science B(Biomedicine & Biote 年份：2004
回 回 产卜爹仇贱回——回 日E回。”。回祖 一回“。回干 肉果幻中 N_。NH lP7-ewwe--一”＄ MN。W;- __._——————》 砧叫]们羽 制作:陈恬’＃陈川个美食Back to yield...
[期刊论文] 作者：Jin-Li Bai,Yu-Wei Jin,Yu-Jin Q,
来源：中华医学杂志（英文版） 年份：2017
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Rapid clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based o
[会议论文] 作者：Yan-yan Cao,Yu-jin Qu,Fang Song,Ting Zhang,Jin-li Bai,Yu-wei Jin,Hong Wang,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
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Rapid clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based o
[会议论文] 作者：Yan-yan Cao,Yu-jin Qu,Fang Song,Ting Zhang,Jin-li Bai,Yu-wei Jin,Hong Wang,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
Background: Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) and tetrahydrobiopterin deficiency (BH4D), according to the defect of enzyme activity, both of which vary substanti...
One exonic missense mutation in SMN1 gene affects splicing and is responsible for spinal muscular at
[会议论文] 作者：Yu-jin Qu,Jin-li Bai,Yan-yan Cao,Yan Li,Wen-hui Zhang,Hong Wang,Yu-wei Jin,Fang Song,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
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[期刊论文] 作者：Yan-yan CAO,Yu-jin QU,Sheng-xi HE,Yan LI,Jin-li BAI,Yu-wei JIN,Hong WANG,Fang SONG,,
来源：Journal of Zhejiang University-Science B(Biomedicine & Biote 年份：2016
目的:分析我国脊肌萎缩症(SMA)患儿SMN2基因甲基化水平与其转录水平,并初步探讨该基因的甲基化修饰是否影响我国儿童型SMA疾病的严重程度。创新点:首次在中国儿童型SMA人群中...
One exonic missense mutation in SMN1 gene affects splicing and is responsible for spinal muscular at
[会议论文] 作者：Yu-jin Qu,Jin-li Bai,Yan-yan Cao,Yan Li,Wen-hui Zhang,Hong Wang,Yu-wei Jin,Fang Song,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
Background: Proximal spinal muscular atrophy (SMA) is a common neuromuscular disorder resulting in death during childhood.Around 81 ～ 95％ of SMA cases are a result of homozygous deletions of survival...
[期刊论文] 作者：Yan LI,Yu-jin QU,Xue-mei ZHONG,Yan-yan CAO,Li-min JIN,Jin-li BAI,Xin MA,Yu-wei JIN,Hong WANG,Yan-ling,
来源：Journal of Zhejiang University-Science B(Biomedicine & Biote 年份：2014
研究目的:I型Crigler-Najjar综合征（CN-I）为先天性间接胆红素血症的最严重的一种,是由位于染色体2q37的葡萄糖醛酸转移酶基因（UGT1A1）的纯合或复合杂合突变引起的一种罕见的遗传...
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