Yang R - Search Results

1

Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy.

Ji Y, Zhang J, Lu Y, Yi Q, Chen M, Xie S, Mao X, Xiao Y, Meng F, Zhang M, Yang R, Guan MX. Ji Y, et al. Among authors: yang r. J Biol Chem. 2020 Sep 18;295(38):13224-13238. doi: 10.1074/jbc.RA120.014603. Epub 2020 Jul 28. J Biol Chem. 2020. PMID: 32723871 Free PMC article.

2

Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.

Chen T, Tong F, Wu XY, Zhu L, Yi QZ, Zheng J, Yang RL, Zhao ZY, Cang XH, Shu Q, Jiang PP. Chen T, et al. J Zhejiang Univ Sci B. 2020 Nov.;21(11):885-896. doi: 10.1631/jzus.B2000339. J Zhejiang Univ Sci B. 2020. PMID: 33150772 Free PMC article.

3

[Establishment of an auxiliary diagnosis system of newborn screening for inherited metabolic diseases based on artificial intelligence technology and a clinical trial].

Yang RL, Yang YL, Wang T, Xu WZ, Yu G, Yang JB, Sun QL, Gu MS, Li HB, Zhao DH, Pei JY, Jiang T, He J, Zou H, Mao XM, Geng GX, Qiang R, Tian GL, Wang Y, Wei HW, Zhang XG, Wang H, Tian YP, Zou L, Kong YY, Zhou YX, Ou MC, Yao ZR, Zhou YL, Zhu WB, Huang YL, Wang YH, Huang CD, Tan Y, Li L, Shang Q, Zheng H, Lyu SL, Wang WJ, Yao Y, Le J, Shu Q. Yang RL, et al. Among authors: yang jb, yang yl. Zhonghua Er Ke Za Zhi. 2021 Apr 2;59(4):286-293. doi: 10.3760/cma.j.cn112140-20201209-01089. Zhonghua Er Ke Za Zhi. 2021. PMID: 33775047 Clinical Trial. Chinese.

4

[Clinicopathological study of infantile hemangioma].

Hou M, Zhang YP, Liu QY, Niu HL, Zhang MY, Yang R, Lei QQ, Gong YB. Hou M, et al. Among authors: yang r. Zhonghua Bing Li Xue Za Zhi. 2021 May 8;50(5):508-510. doi: 10.3760/cma.j.cn112151-20201204-00901. Zhonghua Bing Li Xue Za Zhi. 2021. PMID: 33915660 Chinese.

5

[Analysis of UQCRB gene mutation in a child with mitochondrial complex III deficiency].

Zhang T, Hong F, Qian G, Tong F, Zhou X, Huang X, Yang R, Huang X. Zhang T, et al. Among authors: yang r. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):382-386. doi: 10.3760/cma.j.issn.1003-9406.2017.03.015. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28604960 Chinese.

6

[Phenotypic and genetic analysis of a child with multiple malformations due to 10p13p15.3 duplication].

Xu X, Zhang T, Shen Y, Zheng J, Yang R. Xu X, et al. Among authors: yang r. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):170-174. doi: 10.3760/cma.j.issn.1003-9406.2020.02.018. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32034748 Chinese.

7

[Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1].

Shen Y, Yan K, Dong M, Yang R, Huang X. Shen Y, et al. Among authors: yang r. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020 Oct 25;49(5):574-580. doi: 10.3785/j.issn.1008-9292.2020.10.04. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020. PMID: 33210482 Free PMC article. Chinese.

8

A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum.

Zhang T, Wu Q, Zhu L, Wu D, Yang R, Qi M, Huang X. Zhang T, et al. Among authors: yang r. Eur J Med Genet. 2020 Apr;63(4):103851. doi: 10.1016/j.ejmg.2020.103851. Epub 2020 Jan 15. Eur J Med Genet. 2020. PMID: 31953237

9

Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China.

Zhang T, Shen Y, Xu Y, Wu D, Chen C, Yang R. Zhang T, et al. Among authors: yang r. Clin Chim Acta. 2023 Jul 1;547:117459. doi: 10.1016/j.cca.2023.117459. Epub 2023 Jun 28. Clin Chim Acta. 2023. PMID: 37390946

10

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.

Chen T, Xu W, Wu D, Han J, Zhu L, Tong F, Yang R, Zhao Z, Jiang P, Shu Q. Chen T, et al. Among authors: yang r. Sci Rep. 2018 Nov 20;8(1):17137. doi: 10.1038/s41598-018-35373-9. Sci Rep. 2018. PMID: 30459323 Free PMC article.

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