Jiang T - Search Results

1

Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay.

Wang Y, Sun Y, Liu M, Zhang X, Jiang T. Wang Y, et al. Among authors: jiang t. Front Genet. 2019 May 17;10:436. doi: 10.3389/fgene.2019.00436. eCollection 2019. Front Genet. 2019. PMID: 31156699 Free PMC article.

2

Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population.

Wang X, Wang Y, Ma D, Zhang Z, Li Y, Yang P, Sun Y, Jiang T. Wang X, et al. Among authors: jiang t. Front Genet. 2021 Jan 22;11:623125. doi: 10.3389/fgene.2020.623125. eCollection 2020. Front Genet. 2021. PMID: 33552137 Free PMC article.

3

Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report.

Li Y, Ma D, Sun Y, Meng L, Wang Y, Jiang T. Li Y, et al. Among authors: jiang t. Front Genet. 2018 May 17;9:181. doi: 10.3389/fgene.2018.00181. eCollection 2018. Front Genet. 2018. PMID: 29868125 Free PMC article.

4

A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel.

Wang Y, Sun Y, Jiang T. Wang Y, et al. Among authors: jiang t. Front Pediatr. 2018 Aug 21;6:233. doi: 10.3389/fped.2018.00233. eCollection 2018. Front Pediatr. 2018. PMID: 30186825 Free PMC article.

5

[Analysis of AGR1 gene variants in an infant with early-onset argininemia].

Yang P, Sun Y, Wang Y, Ma D, Cheng W, Jiang T. Yang P, et al. Among authors: jiang t. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Oct 10;36(10):996-998. doi: 10.3760/cma.j.issn.1003-9406.2019.10.011. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31598944 Chinese.

6

An Easily Overlooked Contamination of Syringes in Newborn Screening by Tandem Mass Spectrometry.

Wang Y, Sun Y, Jiang T. Wang Y, et al. Among authors: jiang t. Front Pediatr. 2021 Jan 21;8:596321. doi: 10.3389/fped.2020.596321. eCollection 2020. Front Pediatr. 2021. PMID: 33553068 Free PMC article.

7

Analysis of Biomarkers for Congenital Heart Disease Based on Maternal Amniotic Fluid Metabolomics.

Li Y, Sun Y, Yang L, Huang M, Zhang X, Wang X, Guan X, Yang P, Wang Y, Meng L, Zhou R, Zhou X, Luo C, Hu P, Jiang T, Xu Z. Li Y, et al. Among authors: jiang t. Front Cardiovasc Med. 2021 Jun 7;8:671191. doi: 10.3389/fcvm.2021.671191. eCollection 2021. Front Cardiovasc Med. 2021. PMID: 34164441 Free PMC article.

8

[Tandem mass spectrometry and genetic variant analysis of four neonates with very long chain acyl-coenzyme A dehydrogenase deficiency].

Hong D, Wang Y, Sun Y, Ma D, Zhang Z, Cheng W, Jiang T. Hong D, et al. Among authors: jiang t. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Mar 10;39(3):276-281. doi: 10.3760/cma.j.cn511374-20200922-00681. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35315035 Chinese.

9

[Clinical features and genetic variants of a case with carnitine palmitoyltransferase 1A deficiency].

Hong D, Wang Y, Sun Y, Ma D, Cheng W, Jiang T. Hong D, et al. Among authors: jiang t. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jul 10;39(7):739-742. doi: 10.3760/cma.j.cn511374-20210319-00251. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35810433 Chinese.

10

[Detection of pathogenic mutations for methylmalonic acidemia using new-generation semiconductor targeted sequencing].

Sun Y, Jiang T, Ma D, Yang G, Yang B, Wang Y, Xu Z. Sun Y, et al. Among authors: jiang t. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):56-9. doi: 10.3760/cma.j.issn.1003-9406.2015.01.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 25636100 Chinese.

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