Hao S - Search Results

1

Compound heterozygous variants of the FBXO7 gene resulting in infantile-onset Parkinsonian-pyramidal syndrome in siblings of a Chinese family.

Jin X, An L, Hao S, Liu Q, Zhang Q, Wang X, Feng X, Zhang C, Cao X, Yan Y, Ma X. Jin X, et al. Among authors: hao s. J Clin Lab Anal. 2020 Aug;34(8):e23324. doi: 10.1002/jcla.23324. Epub 2020 Apr 10. J Clin Lab Anal. 2020. PMID: 32274857 Free PMC article.

2

[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].

Yan YS, Wang Z, Hao SJ, Meng Y, Zheng L, Huang SZ. Yan YS, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Aug;26(4):419-22. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009. PMID: 20017307 Chinese.

3

[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I].

Yan YS, Hao SJ, Wang G, Peng L, Hu XP, Jiao HY. Yan YS, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):490-2. doi: 10.3760/cma.j.issn.1003-9406.2011.05.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011. PMID: 21983718 Chinese.

4

[Value of oral mucosa cast-off cells as samples in fluorescent in situ hybridization for the diagnosis of Down's syndrome].

Zheng L, Liu DH, Hao SJ, Yi B, Yan YS. Zheng L, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2012 Mar;14(3):202-4. Zhongguo Dang Dai Er Ke Za Zhi. 2012. PMID: 22433409 Free article. Chinese.

5

[The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].

Yan Y, Hao S, Yao F, Sun Q, Zheng L, Zhang Q, Zhang C, Yang T, Huang S. Yan Y, et al. Among authors: hao s. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):686-92. doi: 10.3760/cma.j.issn.1003-9406.2014.06.002. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014. PMID: 25449068 Chinese.

6

[Congenital central hypoventilation syndrome: analysis of PHOX2B gene mutation in a case].

Yan Y, Yi B, Liu D, Zhao F, Zhang C, Chen X, Hao S. Yan Y, et al. Among authors: hao s. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Oct;32(5):665-9. doi: 10.3760/cma.j.issn.1003-9406.2015.05.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 26418987 Chinese.

7

Five Novel COL7A1 Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa.

Yan Y, Meng Z, Hao S, Wang F, Jin X, Sun D, Gao H, Ma X. Yan Y, et al. Among authors: hao s. Ann Clin Lab Sci. 2018 Jan;48(1):100-105. Ann Clin Lab Sci. 2018. PMID: 29531004

8

Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.

Yan Y, Zhang C, Jin X, Zhang Q, Zheng L, Feng X, Hao S, Gao H, Ma X. Yan Y, et al. Among authors: hao s. Metab Brain Dis. 2019 Jun;34(3):733-745. doi: 10.1007/s11011-019-0387-7. Epub 2019 Feb 12. Metab Brain Dis. 2019. PMID: 30747360

9

[Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia].

Zhang C, Hao S, Zhang Q, Zhou B, Liu F, Lin X, Yan Y. Zhang C, et al. Among authors: hao s. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):616-619. doi: 10.3760/cma.j.issn.1003-9406.2019.06.022. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31055820 Chinese.

10

Evaluation of droplet digital PCR for non-invasive prenatal diagnosis of phenylketonuria.

Yan Y, Wang F, Zhang C, Jin X, Zhang Q, Feng X, Hao S, Gao H, Ma X. Yan Y, et al. Among authors: hao s. Anal Bioanal Chem. 2019 Nov;411(27):7115-7126. doi: 10.1007/s00216-019-02087-4. Epub 2019 Sep 4. Anal Bioanal Chem. 2019. PMID: 31485704

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