Ma XW - Search Results

1

Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria.

Peng W, Ma XW, Yang X, Zhang WQ, Yan L, Wang YX, Liu X, Wang Y, Feng ZC. Peng W, et al. Among authors: ma xw. BMC Med Genet. 2018 Sep 14;19(1):167. doi: 10.1186/s12881-018-0675-9. BMC Med Genet. 2018. PMID: 30217188 Free PMC article.

2

Perinatal occipital lobe injury in children: analysis of twenty-one cases.

Wang SM, Yang CS, Hou Y, Ma XW, Feng ZC, Liao YZ. Wang SM, et al. Among authors: ma xw. Pediatr Neurol. 2012 Dec;47(6):443-7. doi: 10.1016/j.pediatrneurol.2012.08.016. Pediatr Neurol. 2012. PMID: 23127266

3

[Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].

Zhu LN, Ma XW, Zheng T, He F, Feng ZC. Zhu LN, et al. Among authors: ma xw. Zhongguo Dang Dai Er Ke Za Zhi. 2015 Apr;17(4):367-70. Zhongguo Dang Dai Er Ke Za Zhi. 2015. PMID: 25919557 Free article. Chinese.

4

[Detection of subtelomeric copy number variations in children with intellectual disability].

Zhu LN, Wang Y, Peng W, Ma XW, Yang X, Liu X, Feng ZC. Zhu LN, et al. Among authors: ma xw. Zhongguo Dang Dai Er Ke Za Zhi. 2015 Dec;17(12):1273-6. Zhongguo Dang Dai Er Ke Za Zhi. 2015. PMID: 26695663 Free article. Chinese.

5

Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing.

Zhu L, Wu R, Ye Z, Gu R, Wang Y, Hou Y, Feng Z, Ma X. Zhu L, et al. J Pediatr Endocrinol Metab. 2019 Mar 26;32(3):295-300. doi: 10.1515/jpem-2018-0363. J Pediatr Endocrinol Metab. 2019. PMID: 30789823

6

Gene-Focused Networks Underlying Phenotypic Convergence in a Systematically Phenotyped Cohort With Heterogeneous Intellectual Disability.

Wang Y, Zhu LN, Ma XW, Yang F, Xu XL, Yang Y, Yang X, Peng W, Zhang WQ, Liang JY, Zhu WD, Jiang TJ, Zhang XL, Feng ZC. Wang Y, et al. Among authors: ma xw. Front Bioeng Biotechnol. 2020 Feb 7;8:45. doi: 10.3389/fbioe.2020.00045. eCollection 2020. Front Bioeng Biotechnol. 2020. PMID: 32117926 Free PMC article.

7

Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.

Gu Y, Xiang B, Zhu L, Ma X, Chen X, Cai T. Gu Y, et al. BMC Med Genet. 2020 May 11;21(1):99. doi: 10.1186/s12881-020-01042-w. BMC Med Genet. 2020. PMID: 32393352 Free PMC article.

8

Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation.

Ma X, Zhu L, Chen W, Sheng M, Peng F, Liang M, Zhao Y, Wang Y, Feng Z. Ma X, et al. Stem Cell Res. 2021 Dec;57:102571. doi: 10.1016/j.scr.2021.102571. Epub 2021 Oct 23. Stem Cell Res. 2021. PMID: 34763229 Free article.

9

A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy.

Zhu L, Peng F, Deng Z, Feng Z, Ma X. Zhu L, et al. Front Genet. 2022 Feb 11;13:761178. doi: 10.3389/fgene.2022.761178. eCollection 2022. Front Genet. 2022. PMID: 35222528 Free PMC article.

10

Case Report: Identification of Two Variants of ALG13 in Families With or Without Seizure and Binocular Strabismus: Phenotypic Spectrum Analysis.

Cai T, Huang J, Ma X, Hu S, Zhu L, Zhu J, Feng Z. Cai T, et al. Front Genet. 2022 Jul 11;13:892940. doi: 10.3389/fgene.2022.892940. eCollection 2022. Front Genet. 2022. PMID: 35899201 Free PMC article.

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