Zhang L - Search Results

1

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.

Liu Z, Zhang L, Ren C, Xu M, Li S, Ban R, Wu Y, Chen L, Sun S, Elstner M, Shimura M, Ogawa-Tominaga M, Murayama K, Shi T, Prokisch H, Fang F. Liu Z, et al. Among authors: zhang l. J Med Genet. 2022 Apr;59(4):351-357. doi: 10.1136/jmedgenet-2020-107383. Epub 2021 Apr 2. J Med Genet. 2022. PMID: 33811136 Free PMC article.

2

Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.

Liu Z, Shimura M, Zhang L, Zhang W, Wang J, Ogawa-Tominaga M, Wang J, Wang X, Lv J, Shi W, Zhang VW, Murayama K, Fang F. Liu Z, et al. Among authors: zhang l, zhang w, zhang vw. Mitochondrion. 2021 Mar;57:222-229. doi: 10.1016/j.mito.2020.12.014. Epub 2021 Jan 2. Mitochondrion. 2021. PMID: 33401012 Free article.

3

A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated With Familial Peripheral Neuroblastic Tumors in Two Siblings.

Yang Y, Chen J, Qin H, Jin Y, Zhang L, Yang S, Wang H, Fu L, Hong E, Yu Y, Lu J, Chang Y, Ni X, Xu M, Shi T, Guo Y. Yang Y, et al. Among authors: zhang l. Front Genet. 2021 Jul 23;12:652718. doi: 10.3389/fgene.2021.652718. eCollection 2021. Front Genet. 2021. PMID: 34367235 Free PMC article.

4

Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea.

Liu Z, Zhang L, Shen D, Ding C, Yang X, Zhang W, Li J, Deng J, Gong S, Liu J, Qian S, Fang F. Liu Z, et al. Among authors: zhang l, zhang w. Front Pharmacol. 2019 Mar 12;10:259. doi: 10.3389/fphar.2019.00259. eCollection 2019. Front Pharmacol. 2019. PMID: 30914958 Free PMC article.

5

Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing.

Shi X, Zhang L, Bai K, Xie H, Shi T, Zhang R, Fu Q, Chen S, Lu Y, Yu Y, Sun K. Shi X, et al. Among authors: zhang l, zhang r. Comput Struct Biotechnol J. 2020 Feb 12;18:381-392. doi: 10.1016/j.csbj.2020.01.011. eCollection 2020. Comput Struct Biotechnol J. 2020. PMID: 32128068 Free PMC article.

6

Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: A retrospective cohort study.

Zhang L, Pan L, Teng Y, Liang D, Li Z, Wu L. Zhang L, et al. Clin Genet. 2021 Aug;100(2):219-226. doi: 10.1111/cge.13976. Epub 2021 Jun 9. Clin Genet. 2021. PMID: 33942288

7

Transcriptome sequencing of hepatocellular carcinoma uncovers multiple types of dysregulated ncRNAs.

Zhang L, Wang C, Lu X, Xu X, Shi T, Chen J. Zhang L, et al. Front Oncol. 2022 Sep 5;12:927524. doi: 10.3389/fonc.2022.927524. eCollection 2022. Front Oncol. 2022. PMID: 36132143 Free PMC article.

8

Comprehensive Characterization of Circular RNAs in Neuroblastoma Cell Lines.

Zhang L, Zhou H, Li J, Wang X, Zhang X, Shi T, Feng G. Zhang L, et al. Among authors: zhang x. Technol Cancer Res Treat. 2020 Jan-Dec;19:1533033820957622. doi: 10.1177/1533033820957622. Technol Cancer Res Treat. 2020. PMID: 33000697 Free PMC article.

9

X-CNV: genome-wide prediction of the pathogenicity of copy number variations.

Zhang L, Shi J, Ouyang J, Zhang R, Tao Y, Yuan D, Lv C, Wang R, Ning B, Roberts R, Tong W, Liu Z, Shi T. Zhang L, et al. Among authors: zhang r. Genome Med. 2021 Aug 18;13(1):132. doi: 10.1186/s13073-021-00945-4. Genome Med. 2021. PMID: 34407882 Free PMC article.

10

Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series.

Long X, Li Z, Huang Y, Zhang L, Lv W, Teng Y, Linpeng S, Liang D, Wu L. Long X, et al. Among authors: zhang l. Medicine (Baltimore). 2019 May;98(20):e15692. doi: 10.1097/MD.0000000000015692. Medicine (Baltimore). 2019. PMID: 31096510 Free PMC article.

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