A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease
Miao, Mingzhu, Feng, Liqun, Wang, Jue, Xu, Cheng, Su, Xiaotian, Zhang, Guoying, Lu, Shoulian
Published in Frontiers in genetics (29.06.2023)
Published in Frontiers in genetics (29.06.2023)
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Journal Article
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation
Miao, Mingzhu, Lu, Shoulian, Sun, Xiao, Zhao, Meng, Wang, Jue, Su, Xiaotan, Jin, Bai, Sun, Lizhou
Published in BMC medical genomics (13.07.2022)
Published in BMC medical genomics (13.07.2022)
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Journal Article
Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing
Wang, Yanlin, Zhu, Jiansheng, Chen, Yan, Lu, Shoulian, Chen, Biliang, Zhao, Xinrong, Wu, Yi, Han, Xu, Ma, Duan, Liu, Zhongyin, Cram, David, Cheng, Weiwei
Published in Prenatal diagnosis (01.12.2013)
Published in Prenatal diagnosis (01.12.2013)
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Journal Article
Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus
Miao, Mingzhu, Wang, Jue, Guo, Chenyan, Su, Xiaotian, Sun, Lizhou, Lu, Shoulian
Published in Gene (01.03.2024)
Published in Gene (01.03.2024)
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Journal Article
Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing
Wang, Yanlin, Zhu, Jiansheng, Chen, Yan, Lu, Shoulian, Chen, Biliang, Zhao, Xinrong, Wu, Yi, Han, Xu, Ma, Duan, Liu, Zhongyin, Cram, David, Cheng, Weiwei
Published in Prenatal diagnosis (01.12.2013)
Published in Prenatal diagnosis (01.12.2013)
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