Liu L - Search Results

1

Doubly bi-allelic variants of MTHFR and MTHFD1 in a Chinese patient with hyperhomocysteinemia and failure of folic acid therapy.

Liu YX, Ding MH, Sheng Y, Sun MF, Liu L, Zhang Y. Liu YX, et al. Among authors: liu l. Front Genet. 2023 Jan 4;13:964990. doi: 10.3389/fgene.2022.964990. eCollection 2022. Front Genet. 2023. PMID: 36685872 Free PMC article.

2

Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia.

Guo T, Tu CF, Yang DH, Ding SZ, Lei C, Wang RC, Liu L, Kang X, Shen XQ, Yang YF, Tan ZP, Tan YQ, Luo H. Guo T, et al. Among authors: liu l. Hum Genet. 2021 May;140(5):761-773. doi: 10.1007/s00439-020-02241-4. Epub 2021 Jan 3. Hum Genet. 2021. PMID: 33389130

3

Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding.

Luo FM, Fan LL, Sheng Y, Dong Y, Liu L. Luo FM, et al. Among authors: liu l. Front Pediatr. 2021 Jun 18;9:679279. doi: 10.3389/fped.2021.679279. eCollection 2021. Front Pediatr. 2021. PMID: 34222148 Free PMC article.

4

Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis.

Liu YX, Zhang AQ, Luo FM, Sheng Y, Wang CY, Dong Y, Fan L, Liu L. Liu YX, et al. Among authors: liu l. Front Pediatr. 2021 Aug 2;9:687455. doi: 10.3389/fped.2021.687455. eCollection 2021. Front Pediatr. 2021. PMID: 34408996 Free PMC article.

5

A novel mutation (p.Y24N) in NHP2 leads to idiopathic pulmonary fibrosis and lung carcinoma chronic obstructive lung disease by disrupting the expression and nucleocytoplasmic localization of NHP2.

Liu L, Sheng Y, Wang CY, Liu X, Guo T, Peng H, Luo H, Fan LL. Liu L, et al. Among authors: liu x. Biochim Biophys Acta Mol Basis Dis. 2023 Jun;1869(5):166692. doi: 10.1016/j.bbadis.2023.166692. Epub 2023 Mar 16. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 36933847 Free article. No abstract available.

6

Case report: A novel mutation of RecQ-like helicase 5 in a Chinese family with early myocardial infarction, coronary artery disease, and stroke hemiplegia.

Tang Y, Wang Q, Zhang WK, Liu YX, Zheng ZF, Fan LL, Liu L, He J. Tang Y, et al. Among authors: liu l, liu yx. Front Genet. 2023 Apr 26;14:1146932. doi: 10.3389/fgene.2023.1146932. eCollection 2023. Front Genet. 2023. PMID: 37180972 Free PMC article.

7

Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus.

Dong Y, Zhang Y, Sheng Y, Wang F, Liu L, Fan LL. Dong Y, et al. Among authors: liu l. Front Genet. 2023 Oct 10;14:1208540. doi: 10.3389/fgene.2023.1208540. eCollection 2023. Front Genet. 2023. PMID: 37881805 Free PMC article.

8

A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease.

Liu L, Luo H, Sheng Y, Kang X, Peng H, Luo H, Fan LL. Liu L, et al. Hereditas. 2023 Nov 18;160(1):37. doi: 10.1186/s41065-023-00299-4. Hereditas. 2023. PMID: 37978541 Free PMC article.

9

Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient.

Gao SY, Liu YX, Dong Y, Fan LL, Ding Q, Liu L. Gao SY, et al. Among authors: liu l, liu yx. Front Genet. 2023 Oct 31;14:1205052. doi: 10.3389/fgene.2023.1205052. eCollection 2023. Front Genet. 2023. PMID: 38028608 Free PMC article.

10

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient.

Liu L, Luo H. Liu L, et al. Biomed Res Int. 2018 Jan 8;2018:1854269. doi: 10.1155/2018/1854269. eCollection 2018. Biomed Res Int. 2018. PMID: 29511670 Free PMC article.

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

74,118 results

Search Page

Filters