Liang L - Search Results

1

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: liang l, liang d. Front Genet. 2022 Jan 7;12:750719. doi: 10.3389/fgene.2021.750719. eCollection 2021. Front Genet. 2022. PMID: 35069678 Free PMC article.

2

Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.

Zhu T, Ye J, Han L, Qiu W, Zhang H, Liang L, Gu X. Zhu T, et al. Among authors: liang l. Gene. 2013 Oct 15;529(1):80-7. doi: 10.1016/j.gene.2013.07.079. Epub 2013 Aug 7. Gene. 2013. PMID: 23932990

3

21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.

Wang R, Yu Y, Ye J, Han L, Qiu W, Zhang H, Liang L, Gong Z, Wang L, Gu X. Wang R, et al. Among authors: liang l. Steroids. 2016 Apr;108:47-55. doi: 10.1016/j.steroids.2016.01.007. Epub 2016 Jan 21. Steroids. 2016. PMID: 26804566

4

Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.

Huang Z, Ye J, Han L, Qiu W, Zhang H, Yu Y, Liang L, Gong Z, Gu X. Huang Z, et al. Among authors: liang l. Steroids. 2016 Apr;108:85-91. doi: 10.1016/j.steroids.2016.01.016. Epub 2016 Jan 28. Steroids. 2016. PMID: 26827627

5

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.

Fan Y, Zhang X, Wang L, Wang R, Huang Z, Sun Y, Yao R, Huang X, Ye J, Han L, Qiu W, Zhang H, Liang L, Gu X, Yu Y. Fan Y, et al. Among authors: liang l. Sci Rep. 2017 Mar 15;7:44536. doi: 10.1038/srep44536. Sci Rep. 2017. PMID: 28295047 Free PMC article.

6

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.

Zhu T, Ye J, Han L, Qiu W, Zhang H, Liang L, Gu X. Zhu T, et al. Among authors: liang l. Sci Rep. 2017 Jul 28;7(1):6762. doi: 10.1038/s41598-017-06462-y. Sci Rep. 2017. PMID: 28754886 Free PMC article.

7

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.

Wang R, Shen N, Ye J, Han L, Qiu W, Zhang H, Liang L, Sun Y, Fan Y, Wang L, Wang Y, Gong Z, Liu H, Wang J, Yan H, Blau N, Gu X, Yu Y. Wang R, et al. Among authors: liang l. Clin Chim Acta. 2018 Jun;481:132-138. doi: 10.1016/j.cca.2018.02.035. Epub 2018 Feb 28. Clin Chim Acta. 2018. PMID: 29499199

8

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.

Fan Y, Wu Y, Wang L, Wang Y, Gong Z, Qiu W, Wang J, Zhang H, Ji X, Ye J, Han L, Jin X, Shen Y, Li F, Xiao B, Liang L, Zhang X, Liu X, Gu X, Yu Y. Fan Y, et al. Among authors: liang l. BMC Med Genomics. 2018 May 24;11(1):49. doi: 10.1186/s12920-018-0368-4. BMC Med Genomics. 2018. PMID: 29793483 Free PMC article.

9

Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.

Wang Y, Ye J, Qiu WJ, Han LS, Gao XL, Liang LL, Gu XF, Zhang HW. Wang Y, et al. Acta Pharmacol Sin. 2019 Feb;40(2):279-287. doi: 10.1038/s41401-018-0023-9. Epub 2018 Jun 5. Acta Pharmacol Sin. 2019. PMID: 29872134 Free PMC article.

10

[Clinical phenotypes and genetic study of 2 cases with 22q13 deletion syndrome].

Luo J, Fang D, Qiu W, Xiao B, Fan Y, Ye J, Han L, Zhang H, Yu Y, Liang L, Gu X. Luo J, et al. Among authors: liang l. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):361-365. doi: 10.3760/cma.j.issn.1003-9406.2018.03.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29896732 Chinese.

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