Wei H - Search Results

1

Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome.

Wang G, Liu X, Wang M, Wang J, Zhang Z, Allegaert K, Mei D, Zhang Y, Luo S, Fang Y, Li D, Chen Y, Wei H. Wang G, et al. Among authors: wei h. Front Endocrinol (Lausanne). 2024 Feb 28;15:1324160. doi: 10.3389/fendo.2024.1324160. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38481442 Free PMC article.

2

[Clinical characteristics and genetic analysis of two children with Familial glucocorticoid deficiency type 1 due to variants of MC2R gene].

Gao J, Liu X, Cui Y, Cao B, Chen Y, Wei H, Yang H. Gao J, et al. Among authors: wei h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Dec 10;40(12):1526-1530. doi: 10.3760/cma.j.cn511374-20220509-00315. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37994136 Chinese.

3

Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.

Wu SN, E HS, Yu Y, Ling SY, Liang LL, Qiu WJ, Zhang HW, Shuai RX, Wei HY, Yang CJ, Xu P, Chen XG, Zou H, Feng JZ, Niu TT, Hu HL, Zhang KC, Lu DY, Gong ZW, Zhan X, Ji WJ, Gu XF, Chen YX, Han LS. Wu SN, et al. Among authors: wei hy. World J Pediatr. 2024 Aug;20(8):848-858. doi: 10.1007/s12519-023-00770-2. Epub 2023 Dec 9. World J Pediatr. 2024. PMID: 38070096 Free PMC article.

4

Pineal cysts may promote pubertal development in girls with central precocious puberty: a single-center study from China.

Yuan S, Lin Y, Zhao Y, Du M, Dong S, Chen Y, Wei H. Yuan S, et al. Among authors: wei h. Front Endocrinol (Lausanne). 2024 Feb 8;15:1323947. doi: 10.3389/fendo.2024.1323947. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38405141 Free PMC article.

5

[Clinical features and genetic analysis of three children with β-ketothiolase deficiency].

Wu X, Li Y, Chen Q, Wu S, Su C, Li D, Chen Y, Wei H. Wu X, et al. Among authors: wei h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Mar 10;41(3):289-293. doi: 10.3760/cma.j.cn511374-20221109-00775. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38448016 Chinese.

6

[Analysis of clinical features and genetic variants in three children with late-onset Multiple acyl-Coenzyme A dehydrogenase deficiency].

Wang M, Wang X, Ma A, Gu Y, Zhao X, Zhang Y, Li D, Chen Y, Wei H. Wang M, et al. Among authors: wei h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Jul 10;41(7):790-796. doi: 10.3760/cma.j.cn511374-20230611-00355. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38946359 Chinese.

7

[Phenotypic and molecular characterizations of 46,XY disorders of sex development due to variants of NR5A1 gene].

Fu D, Chen Y, Huang A, Wu X, Wang H, Wei H. Fu D, et al. Among authors: wei h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Aug 10;41(8):909-915. doi: 10.3760/cma.j.cn511734-20221209-00853. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 39097271 Chinese.

8

[Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene].

Wang X, Zhang Y, Du M, Yang H, Liu X, Wang M, Chen J, Chen Y, Wei H. Wang X, et al. Among authors: wei h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Aug 10;41(8):941-946. doi: 10.3760/cma.j.cn511374-20230620-00377. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 39097276 Chinese.

9

Transient diabetes mellitus with ABCC8 variant successfully treated with sulfonylurea: Two case reports and review of literature.

Shen LH, Cui Y, Fu DX, Yang W, Wu SN, Wang HZ, Yang HH, Chen YX, Wei HY. Shen LH, et al. World J Diabetes. 2024 Aug 15;15(8):1811-1819. doi: 10.4239/wjd.v15.i8.1811. World J Diabetes. 2024. PMID: 39192869 Free PMC article.

10

Associations between elevated uric acid and brain imaging abnormalities in pediatric patients with methylmalonic acidemia under 5 years of age.

Du M, Wu S, Chen Y, Yuan S, Dong S, Wang H, Wei H, Zhu C. Du M, et al. Among authors: wei h. Sci Rep. 2024 Oct 14;14(1):23992. doi: 10.1038/s41598-024-74710-z. Sci Rep. 2024. PMID: 39402119 Free PMC article.

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