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Search Results - "Autonomous regions of China"
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"Autonomous regions of China"
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1
Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gen...
by
Weiliang Lu
,
Mingxing Liang
,
Jiasun Su
,
Jin Wang
,
Lingxiao Li
,
Shujie Zhang
,
Zailong Qin
,
Limei Huang
,
Yingchi Lu
,
Shang Yi
,
Sheng Yi
,
BoBo Xie
,
Haiyang Zheng
,
Jingsi Luo
,
Xiaoyan Gao
,
Yiping Shen
Published 2020-05-01
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Article
2
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations
by
Sheng Yi
,
Xiaofei Zhang
,
Qi Yang
,
Jingjing Huang
,
Xunzhao Zhou
,
Jiale Qian
,
Pingshan Pan
,
Shang Yi
,
Shujie Zhang
,
Qiang Zhang
,
Xianglian Tang
,
Limei Huang
,
Qinle Zhang
,
Zailong Qin
,
Jingsi Luo
Published 2023-10-01
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Article
3
Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement
by
Jiasun Su
,
Weiliang Lu
,
Mengting Li
,
Qiang Zhang
,
Fei Chen
,
Shang Yi
,
Qi Yang
,
Sheng Yi
,
Xunzhao Zhou
,
Limei Huang
,
Yiping Shen
,
Jingsi Luo
,
Zailong Qin
Published 2021-04-01
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Article
4
A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities
by
Sheng Yi
,
Xianglian Tang
,
Qiang Zhang
,
Yu Liang
,
Jing Huang
,
Shujie Zhang
,
Limei Huang
,
Shang Yi
,
Minpan Huang
,
Zailong Qin
,
Jingsi Luo
Published 2024-03-01
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5
Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene
by
Sheng Yi
,
Zailong Qin
,
Xunzhao Zhou
,
Junjie Chen
,
Shang Yi
,
Qiuli Chen
,
Limei Huang
,
Qinle Zhang
,
Biyan Chen
,
Jingsi Luo
Published 2023-09-01
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Institution
Directory Open Access Journal
5 results
5
Format
Article
5 results
5
Author
Jingsi Luo
5 results
5
Limei Huang
Shang Yi
5 results
5
Sheng Yi
5 results
5
Zailong Qin
5 results
5
Qiang Zhang
3 results
3
Shujie Zhang
3 results
3
Xunzhao Zhou
3 results
3
Jiasun Su
2 results
2
Qi Yang
2 results
2
Qinle Zhang
2 results
2
Weiliang Lu
2 results
2
Xianglian Tang
2 results
2
Yiping Shen
2 results
2
Biyan Chen
1 results
1
BoBo Xie
1 results
1
Fei Chen
1 results
1
Haiyang Zheng
1 results
1
Jiale Qian
1 results
1
Jin Wang
1 results
1
Jing Huang
1 results
1
Jingjing Huang
1 results
1
Junjie Chen
1 results
1
Lingxiao Li
1 results
1
Mengting Li
1 results
1
Mingxing Liang
1 results
1
Minpan Huang
1 results
1
Pingshan Pan
1 results
1
Qiuli Chen
1 results
1
Xiaofei Zhang
1 results
1
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Language
English
5 results
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