Mei L - Search Results

1

A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.

Huang Y, Mei L, Gui B, Su W, Liang D, Wu L, Pan Q. Huang Y, et al. Among authors: mei l. Eye (Lond). 2014 Nov;28(11):1364-9. doi: 10.1038/eye.2014.196. Epub 2014 Aug 29. Eye (Lond). 2014. PMID: 25168411 Free PMC article.

2

[Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome].

Huang Y, Mei L, Su W, Yang P, Liang D, Wu L, Pan Q. Huang Y, et al. Among authors: mei l. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):272-5. doi: 10.3760/cma.j.issn.1003-9406.2014.03.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014. PMID: 24928000 Chinese.

3

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

Mei L, Liang D, Huang Y, Pan Q, Wu L. Mei L, et al. Gene. 2015 Jan 25;555(2):476-80. doi: 10.1016/j.gene.2014.11.033. Epub 2014 Nov 18. Gene. 2015. PMID: 25447906

4

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. J Genet. 2014 Dec;93(3):809-12. doi: 10.1007/s12041-014-0419-3. J Genet. 2014. PMID: 25572239 No abstract available.

5

Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.

Huang Y, Mei L, Pan Q, Tan H, Quan Y, Gui B, Chang J, Ma R, Peng Y, Yang P, Liang D, Wu L. Huang Y, et al. Among authors: mei l. Gene. 2015 Jul 1;565(1):150-4. doi: 10.1016/j.gene.2015.03.066. Epub 2015 Mar 31. Gene. 2015. PMID: 25839938

6

Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III.

Mei L, Huang Y, Pan Q, Su W, Quan Y, Liang D, Wu L. Mei L, et al. Clin Chim Acta. 2015 Jul 20;447:47-51. doi: 10.1016/j.cca.2015.05.005. Epub 2015 May 14. Clin Chim Acta. 2015. PMID: 25982780

7

Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.

Chang J, Zhao L, Chen C, Peng Y, Xia Y, Tang G, Bai T, Zhang Y, Ma R, Guo R, Mei L, Liang D, Cao Q, Wu L. Chang J, et al. Among authors: mei l. Gene. 2015 Sep 10;569(1):46-50. doi: 10.1016/j.gene.2015.04.090. Epub 2015 Jun 20. Gene. 2015. PMID: 26099517

8

Morphometric analysis and developmental comparison of embryos from carriers with balanced chromosomal rearrangements in preimplantation genetic diagnosis cycles.

Gui B, Yao Z, Huang Y, Mei L, Li Y, Liu D, Liu N, Xia Y, Liang D, Wu L. Gui B, et al. Among authors: mei l. Reprod Fertil Dev. 2016 Oct;28(12):1953-1963. doi: 10.1071/RD15093. Reprod Fertil Dev. 2016. PMID: 26118930

9

[Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease].

Mei L, Huang Y, Pan Q, Liang D, Wu L. Mei L, et al. Zhonghua Yan Ke Za Zhi. 2015 May;51(5):360-3. Zhonghua Yan Ke Za Zhi. 2015. PMID: 26311697 Chinese.

10

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: mei l. 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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

2,571 results

Search Page

Filters