Wu L - Search Results

1

Molecular investigation in Chinese patients with primary carnitine deficiency.

Zhang Y, Li H, Liu J, Yan H, Liu Q, Wei X, Xi H, Jia Z, Wu L, Wang H. Zhang Y, et al. Among authors: wu l. Mol Genet Genomic Med. 2019 Sep;7(9):e901. doi: 10.1002/mgg3.901. Epub 2019 Jul 30. Mol Genet Genomic Med. 2019. PMID: 31364285 Free PMC article. Clinical Trial.

2

A syndactyly type IV locus maps to 7q36.

Sato D, Liang D, Wu L, Pan Q, Xia K, Dai H, Wang H, Nishimura G, Yoshiura KI, Xia J, Niikawa N. Sato D, et al. Among authors: wu l. J Hum Genet. 2007;52(6):561-564. doi: 10.1007/s10038-007-0150-5. Epub 2007 May 3. J Hum Genet. 2007. PMID: 17476456

3

[Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II].

Jia B, Xue JJ, Liang DS, Wu LQ. Jia B, et al. Zhonghua Er Ke Za Zhi. 2009 Feb;47(2):109-13. Zhonghua Er Ke Za Zhi. 2009. PMID: 19573456 Chinese.

4

Mutation analysis of the SRY, NR5A1, and DHH genes in six Chinese 46,XY women.

Liao X, Liang D, Li Y, Xi H, Quan Y, Wu L. Liao X, et al. Among authors: wu l. J Matern Fetal Neonatal Med. 2011 Jun;24(6):863-6. doi: 10.3109/14767058.2010.531321. Epub 2011 Mar 2. J Matern Fetal Neonatal Med. 2011. PMID: 21366396 Free article.

5

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.

Hu J, Liang D, Xue J, Liu J, Wu L. Hu J, et al. Among authors: wu l. Mol Vis. 2011 Mar 12;17:715-22. Mol Vis. 2011. PMID: 21423867 Free PMC article.

6

A patient with apparently reciprocal translocation and cryptic 10p deletion.

Wu L, Liao X, Wang H, Zhou Z, Lv W, Liang D. Wu L, et al. Am J Med Genet A. 2011 Jul;155A(7):1753-5. doi: 10.1002/ajmg.a.33734. Epub 2011 May 27. Am J Med Genet A. 2011. PMID: 21626668 No abstract available.

7

Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.

Wu LQ, Hu JJ, Xue JJ, Liang DS. Wu LQ, et al. Genet Mol Res. 2011 Oct 18;10(4):2517-22. doi: 10.4238/2011.October.18.1. Genet Mol Res. 2011. PMID: 22009864 Free article.

8

Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.

Xue J, Peng J, Zhou M, Zhong L, Yin F, Liang D, Wu L. Xue J, et al. Among authors: wu l. Mol Genet Metab. 2012 Jan;105(1):79-83. doi: 10.1016/j.ymgme.2011.09.007. Epub 2011 Sep 16. Mol Genet Metab. 2012. PMID: 22104738

9

A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia.

Fang CY, Xue JJ, Tan L, Jiang CH, Gao QP, Liang DS, Wu LQ. Fang CY, et al. Among authors: wu lq. Genet Mol Res. 2011 Dec 14;10(4):3539-44. doi: 10.4238/2011.December.14.5. Genet Mol Res. 2011. PMID: 22194205 Free article.

10

Mutation analysis in Chinese patients with Cornelia de Lange syndrome.

Zhong Q, Liang D, Liu J, Xue J, Wu L. Zhong Q, et al. Among authors: wu l. Genet Test Mol Biomarkers. 2012 Sep;16(9):1130-4. doi: 10.1089/gtmb.2011.0383. Epub 2012 Aug 2. Genet Test Mol Biomarkers. 2012. PMID: 22857006 Free PMC article.

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