Liu YH - Search Results

1

A recurrent pathogenic splicing mutation of Colony-stimulating factor 1 receptor is responsible for a Chinese family with diffuse leukoencephalopathy.

Zhu L, Zhang W, Hu CF, Fan LL, Liu YH. Zhu L, et al. Among authors: liu yh. QJM. 2024 Mar 27;117(3):233-235. doi: 10.1093/qjmed/hcad274. QJM. 2024. PMID: 38059599 No abstract available.

2

Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome.

Liu YH, Zhang HF, Jin JY, Wei YQ, Wang CY, Fan LL, Liu L. Liu YH, et al. Among authors: liu l. Front Aging Neurosci. 2021 Jun 29;13:671296. doi: 10.3389/fnagi.2021.671296. eCollection 2021. Front Aging Neurosci. 2021. PMID: 34267643 Free PMC article.

3

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome.

Wang ZX, Liu YH, Dong Y, Li YL, Tang TY, Fan LL. Wang ZX, et al. Among authors: liu yh. Biomed Res Int. 2021 Sep 24;2021:4535349. doi: 10.1155/2021/4535349. eCollection 2021. Biomed Res Int. 2021. PMID: 34608437 Free PMC article.

4

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome.

Wang C, Lin Z, Yuan Z, Tang T, Fan L, Liu Y, Wu X. Wang C, et al. Hereditas. 2023 May 12;160(1):22. doi: 10.1186/s41065-023-00282-z. Hereditas. 2023. PMID: 37173762 Free PMC article.

5

Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot-Marie-Tooth disease.

Cao GH, Zhao MF, Dong Y, Fan LL, Liu YH, Deng Y, Tang LL. Cao GH, et al. Among authors: liu yh. Front Neurol. 2024 Feb 28;15:1319962. doi: 10.3389/fneur.2024.1319962. eCollection 2024. Front Neurol. 2024. PMID: 38481944 Free PMC article.

6

A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient.

Liu Y, Xu J, Tao W, Yu R, Zhang X. Liu Y, et al. J Atheroscler Thromb. 2019 Feb 1;26(2):136-144. doi: 10.5551/jat.44537. Epub 2018 Jun 15. J Atheroscler Thromb. 2019. PMID: 29910226 Free PMC article.

7

Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family.

Liu Y, Xu J, Tao W, Fu C, Liu J, Yu R, Zhang X. Liu Y, et al. Eur Neurol. 2019;81(1-2):87-93. doi: 10.1159/000500672. Epub 2019 May 22. Eur Neurol. 2019. PMID: 31117107

8

Incidental Unruptured Intracranial Aneurysms Do Not Impact Outcome in Patients With Acute Cerebral Infarction.

Wu X, Duan Z, Liu Y, Zhou C, Jiao Z, Zhao Y, Tang T. Wu X, et al. Front Neurol. 2021 Apr 26;12:613027. doi: 10.3389/fneur.2021.613027. eCollection 2021. Front Neurol. 2021. PMID: 33981282 Free PMC article.

9

Correlation of sexual dysfunction with sex hormone and estrogen receptor gene polymorphism in Chinese Han women with epilepsy.

Tao L, Duan Z, Liu Y, Hou H, Zhang X. Tao L, et al. Epilepsy Res. 2021 Jan;169:106527. doi: 10.1016/j.eplepsyres.2020.106527. Epub 2020 Dec 10. Epilepsy Res. 2021. PMID: 33360539

10

Effect of blood pressure variability on early neurological deterioration in single small subcortical infarction with parental arterial disease.

Duan Z, Tao L, Tang T, Fu C, Liu J, Chen B, Liu Z, Zhang H, Liu Y, Zhang X. Duan Z, et al. eNeurologicalSci. 2017 Jun 28;8:22-27. doi: 10.1016/j.ensci.2017.06.006. eCollection 2017 Sep. eNeurologicalSci. 2017. PMID: 29260031 Free PMC article.

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