Search Results - Shanling Liu
- Showing 1 - 20 results of 34
- Go to Next Page
-
1
The clinical application and challenges of preimplantation genetic testing by Fan Zhou, Fan Zhou, Xinlian Chen, Xinlian Chen, Shanling Liu, Shanling Liu, Xiaodong Wang, Xiaodong Wang
Published in Frontiers in Genetics (2025-06-01)Get full text
Article -
2
-
3
Case Report: The nonsense variation of the cardiac transcription factor NKX2-5 has been identified in a Chinese family with nonsyndromic congenital heart disease by Haixia Zhang, Haixia Zhang, Jing Chen, Jing Chen, He Wang, He Wang, Qinqin Xiang, Qinqin Xiang, Shanling Liu, Shanling Liu
Published in Frontiers in Genetics (2025-07-01)Get full text
Article -
4
-
5
-
6
-
7
Case Report: Whole exome sequencing identifies compound heterozygous variants in the TRAPPC9 gene in a child with developmental delay by Bingxuan Yu, Bingxuan Yu, Jing Chen, Jing Chen, Shuo Yang, Shuo Yang, He Wang, He Wang, Yuanyuan Xiao, Yuanyuan Xiao, Shanling Liu, Shanling Liu
Published in Frontiers in Genetics (2024-08-01)Get full text
Article -
8
Case report: Whole exome sequencing reveals a novel splicing variant of ANKRD17 gene in a Chinese male juvenile with developmental delay and transient tic disorder by Jing Chen, Jing Chen, Shuo Yang, Shuo Yang, He Wang, He Wang, Hongjing Wang, Hongjing Wang, Yuanyuan Xiao, Yuanyuan Xiao, Shanling Liu, Shanling Liu
Published in Frontiers in Genetics (2024-09-01)Get full text
Article -
9
Case report: Genetic diagnoses in a pediatric patient with retinoblastoma and comorbid global developmental delay: three distinct entities diagnosed by whole exome sequencing in a... by Jing Chen, Jing Chen, Shuo Yang, Shuo Yang, He Wang, He Wang, Hongjing Wang, Hongjing Wang, Yuanyuan Xiao, Yuanyuan Xiao, Shanling Liu, Shanling Liu
Published in Frontiers in Neuroscience (2024-07-01)Get full text
Article -
10
Prenatal diagnosis of a compound heterozygous variation in the FBXL4 gene by trio-WES and imaging monitoring: a case report by Yujia Zhai, Yujia Zhai, Jing Chen, Jing Chen, Shuo Yang, Shuo Yang, He Wang, He Wang, Yuanyuan Xiao, Yuanyuan Xiao, Shanling Liu, Shanling Liu
Published in Frontiers in Genetics (2025-04-01)Get full text
Article -
11
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansio... by Cong Zhou, Xing Wei, Yuanyuan Xiao, Shanling Liu, Jing Wang, Jing Ni
Published in Chinese Medical Journal (2023-09-01)Get full text
Article -
12
-
13
-
14
-
15
-
16
Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3 by Jingqun Mai, Jingqun Mai, Zhu Zhang, Zhu Zhang, Bocheng Xu, Bocheng Xu, Shanling Liu, Shanling Liu, He Wang, He Wang, Hao Wang, Hao Wang, Shuo Yang, Shuo Yang
Published in Frontiers in Genetics (2025-03-01)Get full text
Article -
17
Case Report: The compound heterozygotes variants in FLT4 causes autosomal recessive hereditary lymphedema in a Chinese family by Qinqin Xiang, Qinqin Xiang, Qinqin Xiang, Jing Chen, Jing Chen, Jing Chen, Xiao Xiao, Xiao Xiao, Xiao Xiao, Bocheng Xu, Bocheng Xu, Bocheng Xu, Hanbing Xie, Hanbing Xie, Hanbing Xie, He Wang, He Wang, He Wang, Mei Yang, Mei Yang, Mei Yang, Shanling Liu, Shanling Liu, Shanling Liu
Published in Frontiers in Genetics (2023-03-01)Get full text
Article -
18
A novel heterozygous PKD1 variant causing alternative splicing in a Chinese family with autosomal dominant polycystic kidney disease by Qianying Zhao, Yu Tan, Xiao Xiao, Qinqin Xiang, Mei Yang, He Wang, Shanling Liu
Published in Molecular Genetics & Genomic Medicine (2023-08-01)Get full text
Article -
19
Compound heterozygous missense and intronic variants in B9D1 contribute to a recurrent Meckel syndrome pedigree by Huining Jing, Huining Jing, Bocheng Xu, Bocheng Xu, Hao Wang, Hao Wang, Shanling Liu, Shanling Liu, He Wang, He Wang, Jingqun Mai, Jingqun Mai, Wencong Yao, Wencong Yao, Zhu Zhang, Zhu Zhang
Published in Frontiers in Genetics (2025-08-01)Get full text
Article -
20