Li W - Search Results

1

Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.

Chen Y, Fang B, Hu X, Guo R, Guo J, Fang K, Ni J, Li W, Qian S, Hao C. Chen Y, et al. Among authors: li w. Orphanet J Rare Dis. 2021 Sep 29;16(1):403. doi: 10.1186/s13023-021-02028-4. Orphanet J Rare Dis. 2021. PMID: 34587972 Free PMC article.

2

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.

Liu J, Hu XY, Zhao ZP, Guo RL, Guo J, Li W, Hao CJ, Xu BP. Liu J, et al. Among authors: li w. BMC Med Genet. 2019 Nov 14;20(1):182. doi: 10.1186/s12881-019-0919-3. BMC Med Genet. 2019. PMID: 31727123 Free PMC article.

3

[Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome].

Hu X, Guo R, Guo J, Li W, Liu L, Hao C. Hu X, et al. Among authors: li w. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1187-1190. doi: 10.3760/cma.j.issn.1003-9406.2019.12.009. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31813144 Chinese.

4

A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency.

Hu X, Liu J, Guo R, Guo J, Zhao Z, Li W, Xu B, Hao C. Hu X, et al. Among authors: li w. Mol Cytogenet. 2019 Dec 19;12:51. doi: 10.1186/s13039-019-0463-z. eCollection 2019. Mol Cytogenet. 2019. PMID: 31890031 Free PMC article.

5

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.

Hu X, Guo R, Guo J, Qi Z, Li W, Hao C. Hu X, et al. Among authors: li w. Front Genet. 2020 Jun 11;11:473. doi: 10.3389/fgene.2020.00473. eCollection 2020. Front Genet. 2020. PMID: 32595695 Free PMC article.

6

Compound heterozygous variants in POR gene identified by whole-exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency.

Hao C, Guo J, Guo R, Qi Z, Li W, Ni X. Hao C, et al. Among authors: li w. Pediatr Investig. 2018 Jul 16;2(2):90-95. doi: 10.1002/ped4.12035. eCollection 2018 Jun. Pediatr Investig. 2018. PMID: 32851239 Free PMC article.

7

Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency.

Zhang P, Hu X, Guo R, Guo J, Li W, Qian S, Hao C, Liu J. Zhang P, et al. Among authors: li w. Pediatr Investig. 2019 Jun 25;3(2):86-90. doi: 10.1002/ped4.12130. eCollection 2019 Jun. Pediatr Investig. 2019. PMID: 32851297 Free PMC article.

8

Whole-exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non-compaction cardiomyopathy.

Sun Q, Guo J, Hao C, Guo R, Hu X, Chen Y, Yang W, Li W, Feng Y. Sun Q, et al. Among authors: li w. Pediatr Investig. 2020 Mar 17;4(1):11-16. doi: 10.1002/ped4.12183. eCollection 2020 Mar. Pediatr Investig. 2020. PMID: 32851336 Free PMC article.

9

Whole exome sequencing for non-selective pediatric patients with hyperlipidemia.

Hu X, Chen L, Gong C, Guo J, Chen Y, Wang Q, Guo R, Li W, Hao C. Hu X, et al. Among authors: li w. Gene. 2021 Feb 5;768:145310. doi: 10.1016/j.gene.2020.145310. Epub 2020 Nov 18. Gene. 2021. PMID: 33217533

10

Exome sequencing as the first-tier test for pediatric respiratory diseases: A single-center study.

Hao C, Guo R, Liu J, Hu X, Guo J, Yao Y, Zhao Z, Qi Z, Yin J, Chen L, Wang H, Xu B, Li W. Hao C, et al. Among authors: li w. Hum Mutat. 2021 Jul;42(7):891-900. doi: 10.1002/humu.24216. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33942430

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

82,632 results

Search Page

Filters