Li H - Search Results

1

De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.

Peng Y, Ma R, Zhou Y, Xia Y, Wen J, Zhang Y, Guo R, Li H, Pan Q, Zhang R, Tang C, Liang D, Wu L. Peng Y, et al. Among authors: li h. Mol Cytogenet. 2015 Nov 9;8:88. doi: 10.1186/s13039-015-0191-y. eCollection 2015. Mol Cytogenet. 2015. PMID: 26557157 Free PMC article.

2

Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing.

Liang D, Lv W, Wang H, Xu L, Liu J, Li H, Hu L, Peng Y, Wu L. Liang D, et al. Among authors: li h. Prenat Diagn. 2013 May;33(5):409-15. doi: 10.1002/pd.4033. Epub 2013 Jan 9. Prenat Diagn. 2013. PMID: 23299662

3

Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.

Li Z, Liu J, Li H, Peng Y, Lv W, Long Z, Liang D, Wu L. Li Z, et al. Among authors: li h. Gene. 2013 Dec 1;531(2):502-5. doi: 10.1016/j.gene.2013.09.006. Epub 2013 Sep 12. Gene. 2013. PMID: 24035902 Review.

4

Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes.

Liang D, Peng Y, Lv W, Deng L, Zhang Y, Li H, Yang P, Zhang J, Song Z, Xu G, Cram DS, Wu L. Liang D, et al. Among authors: li h. J Mol Diagn. 2014 Sep;16(5):519-526. doi: 10.1016/j.jmoldx.2014.05.002. Epub 2014 Jul 3. J Mol Diagn. 2014. PMID: 24998187 Free article.

5

Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).

Lv W, Wei X, Guo R, Liu Q, Zheng Y, Chang J, Bai T, Li H, Zhang J, Song Z, Cram DS, Liang D, Wu L. Lv W, et al. Among authors: li h. Clin Chem. 2015 Jan;61(1):172-81. doi: 10.1373/clinchem.2014.229328. Epub 2014 Nov 6. Clin Chem. 2015. PMID: 25376582

6

[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: li 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.

7

Identification of a novel SHOX mutation in a Chinese family with isolated Madelung deformity.

Mei L, Huang Y, Pan Q, Li H, Liang D, Wu L. Mei L, et al. Among authors: li h. J Genet. 2014 Dec;93(3):809-12. doi: 10.1007/s12041-014-0419-3. J Genet. 2014. PMID: 25572239 No abstract available.

8

Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient.

Li H, Zhang Y, Wei X, Peng Y, Yang P, Tan H, Chen C, Pan Q, Liang D, Wu L. Li H, et al. Gene. 2015 Sep 15;569(2):313-7. doi: 10.1016/j.gene.2015.04.071. Epub 2015 Apr 29. Gene. 2015. PMID: 25936346

9

Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.

Zhang Y, Li H, Ma R, Mei L, Wei X, Liang D, Wu L. Zhang Y, et al. Among authors: li h. Clin Chim Acta. 2016 Jan 30;453:75-9. doi: 10.1016/j.cca.2015.12.003. Epub 2015 Dec 4. Clin Chim Acta. 2016. PMID: 26656312

10

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.

Yang P, Tan H, Xia Y, Yu Q, Wei X, Guo R, Peng Y, Chen C, Li H, Mei L, Huang Y, Liang D, Wu L. Yang P, et al. Among authors: li h. Am J Med Genet A. 2016 Jun;170(6):1613-21. doi: 10.1002/ajmg.a.37634. Epub 2016 Mar 30. Am J Med Genet A. 2016. PMID: 27028180 Review.

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