Zhu H - Search Results

1

Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.

Liu Y, Chen M, Liu J, Mao A, Teng Y, Yan H, Zhu H, Li Z, Liang D, Wu L. Liu Y, et al. Among authors: zhu h. Clin Chem. 2022 Jul 3;68(7):927-939. doi: 10.1093/clinchem/hvac046. Clin Chem. 2022. PMID: 35714169

2

[Phenotype-genotype correlation analysis of 12 cases with Angelman/Prader-Willi syndrome].

Chen C, Peng Y, Xia Y, Li H, Zhu H, Pan Q, Yin F, Wu L. Chen C, et al. Among authors: zhu h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):708-12. doi: 10.3760/cma.j.issn.1003-9406.2014.06.006. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014. PMID: 25449072 Chinese.

3

DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

Guo R, Zhu G, Zhu H, Ma R, Peng Y, Liang D, Wu L. Guo R, et al. Among authors: zhu g, zhu h. J Hum Genet. 2015 Aug;60(8):435-42. doi: 10.1038/jhg.2015.43. Epub 2015 May 14. J Hum Genet. 2015. PMID: 25972034

4

Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations.

Lv W, Liang L, Chen X, Li Z, Liang D, Zhu H, Teng Y, Wu W, Wu L, Han L. Lv W, et al. Among authors: zhu h. Front Genet. 2022 Jan 7;12:750719. doi: 10.3389/fgene.2021.750719. eCollection 2021. Front Genet. 2022. PMID: 35069678 Free PMC article.

5

Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest.

Yao Z, Zeng J, Zhu H, Zhao J, Wang X, Xia Q, Li Y, Wu L. Yao Z, et al. Among authors: zhu h. J Ovarian Res. 2022 Mar 30;15(1):38. doi: 10.1186/s13048-022-00971-9. J Ovarian Res. 2022. PMID: 35354490 Free PMC article.

6

A novel homozygous mutation in the PADI6 gene causes early embryo arrest.

Wang X, Zhu H, He Y, Zeng J, Zhao J, Xia Q, Wu L, Yao Z, Li Y. Wang X, et al. Among authors: zhu h. Reprod Health. 2022 Sep 10;19(1):190. doi: 10.1186/s12978-022-01495-7. Reprod Health. 2022. PMID: 36088419 Free PMC article.

7

Identification of novel Mendelian disorders of the epigenetic machinery (MDEMs)-associated functional mutations and neurodevelopmental disorders.

Li S, Li H, Liu D, Xing Q, Chen X, Zhang H, Wen J, Zhu H, Liang D, Li Z, Wu L. Li S, et al. Among authors: zhu h. QJM. 2023 May 27;116(5):355-364. doi: 10.1093/qjmed/hcad005. QJM. 2023. PMID: 36625521

8

Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family.

Zhang L, Teng Y, Hu H, Zhu H, Wen J, Liang D, Li Z, Wu L. Zhang L, et al. Among authors: zhu h. Front Genet. 2023 Jan 4;13:1052915. doi: 10.3389/fgene.2022.1052915. eCollection 2022. Front Genet. 2023. PMID: 36685824 Free PMC article.

9

Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.

Xing Q, Zhou Q, Li H, Wang Z, Li S, Wu J, Zhu H, Liang D, Li Z, Wu L. Xing Q, et al. Among authors: zhu h. Oral Dis. 2024 Oct;30(7):4608-4619. doi: 10.1111/odi.14838. Epub 2023 Dec 21. Oral Dis. 2024. PMID: 38129747

10

Application of whole exome sequencing in carrier screening for high-risk families without probands.

Huang Q, Wang Z, Teng Y, Zhang W, Wen J, Zhu H, Liang D, Wu L, Li Z. Huang Q, et al. Among authors: zhu h. Front Genet. 2024 Jun 24;15:1415811. doi: 10.3389/fgene.2024.1415811. eCollection 2024. Front Genet. 2024. PMID: 38978874 Free PMC article.

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