Li Z - Search Results

1

[SLC22A5 gene mutation analysis and prenatal diagnosis for a family with primary carnitine deficiency].

Tan J, Chen D, Li Z, Yuan D, Liu B, Yan T, Huang J, Cai R. Tan J, et al. Among authors: li z. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):690-693. doi: 10.3760/cma.j.issn.1003-9406.2019.07.008. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31302912 Chinese.

2

[Clinical and genetic analysis of a child with Noonan syndrome].

Tan J, Li Z, Li W, Liu B, Huang J, Yan T, Huang J, Cai R. Tan J, et al. Among authors: li z, li w. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):588-591. doi: 10.3760/cma.j.issn.1003-9406.2019.06.014. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31055812 Chinese.

3

[Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia].

Tan J, Yan T, Li Z, Huang J, Cai R. Tan J, et al. Among authors: li z. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Aug 10;36(8):805-808. doi: 10.3760/cma.j.issn.1003-9406.2019.08.013. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31400133 Chinese.

4

[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II].

Tan J, Pan L, Huang J, Li W, Li Z, Chang R, Li J, Yan T, Huang J, Yuan D, Cai R. Tan J, et al. Among authors: li z, li j, li w. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1163-1166. doi: 10.3760/cma.j.issn.1003-9406.2019.12.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31813138 Chinese.

5

[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].

Tan JQ, Chen DY, Li ZT, Huang JW, Yan TZ, Cai R. Tan JQ, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2016 Oct;18(10):1019-1025. doi: 10.7499/j.issn.1008-8830.2016.10.021. Zhongguo Dang Dai Er Ke Za Zhi. 2016. PMID: 27751224 Free PMC article. Chinese.

6

[Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis].

Huang JW, Tang N, Li WG, Li ZT, Luo SQ, Li JW, Huang J, Yan TZ. Huang JW, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2016 Nov;18(11):1136-1140. doi: 10.7499/j.issn.1008-8830.2016.11.016. Zhongguo Dang Dai Er Ke Za Zhi. 2016. PMID: 27817780 Free PMC article. Chinese.

7

[CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency].

Tan JQ, Chen DY, Li WG, Li ZT, Huang JW, Yan TZ, Cai R. Tan JQ, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2016 Dec;18(12):1282-1285. doi: 10.7499/j.issn.1008-8830.2016.12.017. Zhongguo Dang Dai Er Ke Za Zhi. 2016. PMID: 27974123 Free PMC article. Chinese.

8

[Genetic diagnosis of 10 neonates with primary carnitine deficiency].

Tan JQ, Chen DY, Li ZT, Yan TZ, Huang JW, Cai R. Tan JQ, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2017 Nov;19(11):1150-1154. doi: 10.7499/j.issn.1008-8830.2017.11.005. Zhongguo Dang Dai Er Ke Za Zhi. 2017. PMID: 29132460 Free PMC article. Chinese.

9

[Pancytopenia and metabolic decompensation in a neonate].

Tan JQ, Chen DY, Mo ZQ, Li ZT, Huang JW, Cai R, Yan TZ. Tan JQ, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2016 Nov;18(11):1150-1153. doi: 10.7499/j.issn.1008-8830.2016.11.019. Zhongguo Dang Dai Er Ke Za Zhi. 2016. PMID: 27817783 Free PMC article. Chinese.

10

Copy number variations in the GATA4, NKX2-5, TBX5, BMP4 CRELD1, and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease.

Li Z, Huang J, Liang B, Zeng D, Luo S, Yan T, Liao F, Huang J, Li J, Cai R, Deng X, Tang N. Li Z, et al. Among authors: li j. J Clin Lab Anal. 2019 Feb;33(2):e22660. doi: 10.1002/jcla.22660. Epub 2018 Sep 17. J Clin Lab Anal. 2019. PMID: 30221396 Free PMC article.

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