Li X - Search Results

1

A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome.

Huang B, Li S, Chai Y, Fan Y, Li X, Liu Y, Fu Y, Song X, Cui J. Huang B, et al. Among authors: li s, li x. Mol Genet Metab Rep. 2024 Jan 30;38:101063. doi: 10.1016/j.ymgmr.2024.101063. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469092 Free PMC article.

2

Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.

Li X, Yao R, Tan X, Li N, Ding Y, Li J, Chang G, Chen Y, Ma L, Wang J, Fu L, Wang X. Li X, et al. Among authors: li j, li n. Clin Genet. 2019 Oct;96(4):290-299. doi: 10.1111/cge.13588. Epub 2019 Jul 10. Clin Genet. 2019. PMID: 31219622

3

Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.

Li X, Yao R, Chang G, Li Q, Song C, Li N, Ding Y, Li J, Chen Y, Wang Y, Huang X, Shen Y, Zhang H, Wang J, Wang X. Li X, et al. Among authors: li j, li n, li q. J Clin Endocrinol Metab. 2022 Mar 24;107(4):972-985. doi: 10.1210/clinem/dgab863. J Clin Endocrinol Metab. 2022. PMID: 34850017 Free PMC article.

4

SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS.

Li X, Cheng Q, Li N, Chang G, Ding Y, Li J, Shen Y, Wang J, Wang X. Li X, et al. Among authors: li j, li n. Fetal Pediatr Pathol. 2018 Dec;37(6):404-410. doi: 10.1080/15513815.2018.1509406. Epub 2018 Dec 28. Fetal Pediatr Pathol. 2018. PMID: 30592236

5

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants.

Ding Y, Li Z, Zhang Q, Li N, Chang G, Wang Y, Li X, Li J, Li Q, Yao RE, Li X, Wang X. Ding Y, et al. Among authors: li z, li j, li x, li n, li q. Front Endocrinol (Lausanne). 2023 Mar 7;14:1066320. doi: 10.3389/fendo.2023.1066320. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36967753 Free PMC article.

6

[Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene].

Li Z, Wang Y, Li X, Feng B, Gu S, Yang F, Chang G, Wang J, Wang X. Li Z, et al. Among authors: li x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Aug 10;40(8):998-1003. doi: 10.3760/cma.j.cn511374-20220823-00574. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37532501 Chinese.

7

The rheumatoid arthritis drug auranofin lowers leptin levels and exerts antidiabetic effects in obese mice.

Cox AR, Masschelin PM, Saha PK, Felix JB, Sharp R, Lian Z, Xia Y, Chernis N, Bader DA, Kim KH, Li X, Yoshino J, Li X, Li G, Sun Z, Wu H, Coarfa C, Moore DD, Klein S, Sun K, Hartig SM. Cox AR, et al. Among authors: li g, li x. Cell Metab. 2022 Dec 6;34(12):1932-1946.e7. doi: 10.1016/j.cmet.2022.09.019. Epub 2022 Oct 14. Cell Metab. 2022. PMID: 36243005 Free PMC article.

8

Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.

Chen H, Li X, Liu X, Wang J, Zhang Z, Wu J, Huang M, Guo Y, Li F, Wang X, Fu L. Chen H, et al. Among authors: li f, li x. Orphanet J Rare Dis. 2019 Feb 7;14(1):29. doi: 10.1186/s13023-019-1010-z. Orphanet J Rare Dis. 2019. PMID: 30732632 Free PMC article.

9

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.

Tang Y, Chen Y, Wang J, Zhang Q, Wang Y, Xu Y, Li X, Wang J, Wang X. Tang Y, et al. Among authors: li x. Endocr Connect. 2023 Sep 4;12(10):e230029. doi: 10.1530/EC-23-0029. Print 2023 Oct 1. Endocr Connect. 2023. PMID: 37493574 Free PMC article.

10

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.

Feng B, Li X, Zhang Q, Wang Y, Gu S, Yao RE, Li Z, Gao S, Chang G, Li Q, Li N, Fu L, Wang J, Wang X. Feng B, et al. Among authors: li z, li x, li n, li q. Orphanet J Rare Dis. 2023 Sep 11;18(1):284. doi: 10.1186/s13023-023-02878-0. Orphanet J Rare Dis. 2023. PMID: 37697378 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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

169,378 results

Search Page