Ma HW - Search Results

1

Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report.

Lin SZ, Feng JH, Sun LP, Ma HW, Wang WQ, Li JY. Lin SZ, et al. Among authors: ma hw. World J Clin Cases. 2022 Feb 26;10(6):1889-1895. doi: 10.12998/wjcc.v10.i6.1889. World J Clin Cases. 2022. PMID: 35317131 Free PMC article.

2

[Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].

Lin SZ, Sun XT, Ma HW. Lin SZ, et al. Among authors: ma hw. Zhongguo Dang Dai Er Ke Za Zhi. 2019 Nov;21(11):1094-1098. doi: 10.7499/j.issn.1008-8830.2019.11.008. Zhongguo Dang Dai Er Ke Za Zhi. 2019. PMID: 31753091 Free PMC article. Chinese.

3

Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.

Liu WL, He ZX, Li F, Ai R, Ma HW. Liu WL, et al. Among authors: ma hw. J Genet. 2018 Mar;97(1):35-46. J Genet. 2018. PMID: 29666323 Review.

4

[NIPBL gene mutations in two children with Cornelia de Lange syndrome].

Zhao YJ, Ma HW. Zhao YJ, et al. Among authors: ma hw. Zhongguo Dang Dai Er Ke Za Zhi. 2018 May;20(5):387-391. doi: 10.7499/j.issn.1008-8830.2018.05.010. Zhongguo Dang Dai Er Ke Za Zhi. 2018. PMID: 29764576 Free PMC article. Chinese.

5

Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China.

Liu WL, Li F, He ZX, Ai R, Ma HW. Liu WL, et al. Among authors: ma hw. Genet Mol Res. 2013 Sep 13;12(3):3598-604. doi: 10.4238/2013.September.13.4. Genet Mol Res. 2013. PMID: 24085424 Free article.

6

[Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda].

Lu JF, Ma HW, Jiang J, Niu GH, Liu XM. Lu JF, et al. Among authors: ma hw. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Aug;21(4):309-11. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004. PMID: 15300622 Chinese.

7

[Relationship of genotypes with clinical phenotypes and outcomes in children with cobalamin C type combined methylmalonic aciduria and homocystinuria].

Yu YF, Li F, Ma HW. Yu YF, et al. Among authors: ma hw. Zhongguo Dang Dai Er Ke Za Zhi. 2015 Aug;17(8):769-74. Zhongguo Dang Dai Er Ke Za Zhi. 2015. PMID: 26287336 Free article. Chinese.

8

[Gene variant analysis of a patient with multiple carboxylase deficiency].

Xing X, Liu S, Luo P, Li F, Wu Y, Wang S, Ma H, Luo Y. Xing X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Apr 10;37(4):419-422. doi: 10.3760/cma.j.issn.1003-9406.2020.04.013. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32219826 Chinese.

9

Identification of a mutation in the WISP3 gene in three unrelated families with progressive pseudorheumatoid dysplasia.

Yu Y, Hu M, Xing X, Li F, Song Y, Luo Y, Ma H. Yu Y, et al. Mol Med Rep. 2015 Jul;12(1):419-25. doi: 10.3892/mmr.2015.3430. Epub 2015 Mar 4. Mol Med Rep. 2015. PMID: 25738435

10

[Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease].

Ma HW, Lu JF, Jiang J, Chen LY, Niu GH, Wu BM, Kanazawa N, Tsujino S. Ma HW, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Feb;22(1):79-81. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005. PMID: 15696488 Chinese.

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