Huang J - 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: huang j. 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

[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. Among authors: huang j. 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.

3

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: huang 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.

4

[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: huang j. 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.

5

[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: huang j. 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.

6

[Analysis of CGDH gene variants and clinical features in three patients with glutaric aciduria type Ⅰ].

Tan J, Chen D, Yan T, Huang J, Cai R. Tan J, et al. Among authors: huang j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Sep 10;36(9):882-885. doi: 10.3760/cma.j.issn.1003-9406.2019.09.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31515781 Chinese.

7

[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].

Tan J, Chen D, Huang J, Chang R, Yan T, Cai R. Tan J, et al. Among authors: huang j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Nov 10;36(11):1067-1072. doi: 10.3760/cma.j.issn.1003-9406.2019.11.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31703127 Chinese.

8

[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: huang j. 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.

9

Diagnosis and Prenatal Diagnosis in a Chinese Family Carrying the Rare α-Thalassemia Gene HBA2: c.1A>G Mutation.

Chen X, Luo S, Huang J, Yuan D, Yan T, Cai R, Tang N. Chen X, et al. Among authors: huang j. Hemoglobin. 2020 Jan;44(1):51-54. doi: 10.1080/03630269.2020.1711771. Epub 2020 Jan 14. Hemoglobin. 2020. PMID: 31933393

10

[Analysis of beta-globin gene variants in Liuzhou area of Guangxi].

Chen L, Luo S, Tang N, Wang Q, Xu Z, Qin L, Wang J, Zhong Q, Ya J, Liu X, Cai R, Huang J. Chen L, et al. Among authors: huang j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Apr 10;37(4):378-383. doi: 10.3760/cma.j.issn.1003-9406.2020.04.004. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32219817 Chinese.

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