Ma J - Search Results

1

[Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review].

Wang D, Huang J, Zhang K, Lyu Y, Gao M, Ma J, Wan Y, Gai Z, Liu Y. Wang D, et al. Among authors: ma j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Nov 10;40(11):1392-1396. doi: 10.3760/cma.j.cn511374-20211101-00868. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37906148 Review. Chinese.

2

In situ synthesis of hydroxyapatite coating by laser cladding.

Wang DG, Chen CZ, Ma J, Zhang G. Wang DG, et al. Among authors: ma j. Colloids Surf B Biointerfaces. 2008 Oct 15;66(2):155-62. doi: 10.1016/j.colsurfb.2008.06.003. Epub 2008 Jun 19. Colloids Surf B Biointerfaces. 2008. PMID: 18657403

3

[Clinical and genetic analysis of a neonate with Cornelia de Lange syndrome 5 caused by HDAC8 gene mutation].

Ma J, Zhang Q, Zhang K, Lyu Y, Gao M, Gai Z, Liu Y. Ma J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):720-723. doi: 10.3760/cma.j.issn.1003-9406.2019.07.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31302920 Chinese.

4

[Analysis of RPS6KA3 gene mutation in a Chinese pedigree affected with Coffin-Lowry syndrome].

Shen N, Liu Y, Zhang K, Lyu Y, Gao M, Ma J, Xu L, Gai Z. Shen N, et al. Among authors: ma j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Aug 10;36(8):798-800. doi: 10.3760/cma.j.issn.1003-9406.2019.08.011. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31400131 Chinese.

5

Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.

Wang D, Gao M, Zhang K, Jin R, Lv Y, Liu Y, Ma J, Wan Y, Gai Z, Liu Y. Wang D, et al. Among authors: ma j. Front Pharmacol. 2019 Jul 25;10:814. doi: 10.3389/fphar.2019.00814. eCollection 2019. Front Pharmacol. 2019. PMID: 31404137 Free PMC article.

6

Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1.

Zhang H, Ma Y, Song F, Yang X, Li Y, Guan J, Lv Y, Gao M, Ma J, Liu Y, Gai Z. Zhang H, et al. Among authors: ma j, ma y. Stem Cell Res. 2019 Aug;39:101505. doi: 10.1016/j.scr.2019.101505. Epub 2019 Jul 19. Stem Cell Res. 2019. PMID: 31415973 Free article.

7

[Molecular cytogenetic diagnosis of a case with ring chromosome 18 syndrome].

Lyu Y, Wang X, Zhang K, Gao M, Ma J, Liu X, Gai Z, Liu Y. Lyu Y, et al. Among authors: ma j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Oct 10;36(10):1010-1014. doi: 10.3760/cma.j.issn.1003-9406.2019.10.015. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31598948 Chinese.

8

An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene.

Li Y, Zhang H, Yan B, Ma Y, Yang X, Guan J, Lv Y, Gao M, Ma J, Gai Z, Liu Y. Li Y, et al. Among authors: ma j, ma y. Stem Cell Res. 2019 Oct;40:101579. doi: 10.1016/j.scr.2019.101579. Epub 2019 Sep 14. Stem Cell Res. 2019. PMID: 31610500 Free article.

9

[Analysis of CANT1 gene variant in a girl with Desbuquois dysplasia type I].

Ma J, Yang Y, Zhang K, Huang Y, Lyu Y, Gao M, Gai Z, Liu Y. Ma J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1206-1209. doi: 10.3760/cma.j.issn.1003-9406.2019.12.014. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31813149 Chinese.

10

[Clinical and genetic analysis of a patient with periventricular nodular heterotopia 7 caused by NEDD4L gene variant].

Ma J, Gao J, Zhang K, Lyu Y, Gao M, Wang D, Gai Z, Liu Y. Ma J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):41-43. doi: 10.3760/cma.j.issn.1003-9406.2020.01.011. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 31922594 Chinese.

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