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Items: 1 to 20 of 221

1.

A novel mutation in PRPS1 gene causes X-linked Charcot-Marie-Tooth disease-5.

Meng L, Wang K, Lv H, Wang Z, Zhang W, Yuan Y.

Neuropathology. 2019 Aug 21. doi: 10.1111/neup.12589. [Epub ahead of print]

PMID:
31434166
2.

Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease.

Deng J, Gu M, Miao Y, Yao S, Zhu M, Fang P, Yu X, Li P, Su Y, Huang J, Zhang J, Yu J, Li F, Bai J, Sun W, Huang Y, Yuan Y, Hong D, Wang Z.

J Med Genet. 2019 Aug 14. pii: jmedgenet-2019-106268. doi: 10.1136/jmedgenet-2019-106268. [Epub ahead of print]

PMID:
31413119
3.

Erythrocyte membrane-biointerfaced spherical nucleic acids: Robust performance for microRNA quantification.

Yang Y, Xue L, Zheng J, Li C, Huang Y, Xiang Y, Wang Z, Li G.

Anal Chim Acta. 2019 Nov 8;1080:189-195. doi: 10.1016/j.aca.2019.07.022. Epub 2019 Jul 12.

PMID:
31409469
4.

Magnetic-responsive and targeted cancer nanotheranostics by PA/MR bimodal imaging-guided photothermally triggered immunotherapy.

Guo Y, Ran Y, Wang Z, Cheng J, Cao Y, Yang C, Liu F, Ran H.

Biomaterials. 2019 Oct;219:119370. doi: 10.1016/j.biomaterials.2019.119370. Epub 2019 Jul 18.

PMID:
31357006
5.

Novel TTN mutations and muscle imaging characteristics in congenital titinopathy.

Yu M, Zhu Y, Xie Z, Zheng Y, Xiao J, Zhang W, Nishino I, Yuan Y, Wang Z.

Ann Clin Transl Neurol. 2019 Jul;6(7):1311-1318. doi: 10.1002/acn3.50831. Epub 2019 Jul 1.

6.

Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases.

Hou Y, Xie Z, Zhao X, Yuan Y, Dou P, Wang Z.

PLoS One. 2019 Jul 25;14(7):e0219628. doi: 10.1371/journal.pone.0219628. eCollection 2019.

7.

Gene Amplification-Driven Long Noncoding RNA SNHG17 Regulates Cell Proliferation and Migration in Human Non-Small-Cell Lung Cancer.

Xu T, Yan S, Jiang L, Yu S, Lei T, Yang D, Lu B, Wei C, Zhang E, Wang Z.

Mol Ther Nucleic Acids. 2019 Jun 20;17:405-413. doi: 10.1016/j.omtn.2019.06.008. [Epub ahead of print]

8.

Combined Cerebral Microbleeds With Lacunar Infarctions in Familial Cerebral Cavernous Malformations.

Wang Q, Meng L, Wang Z.

JAMA Neurol. 2019 Jul 15. doi: 10.1001/jamaneurol.2019.1980. [Epub ahead of print] No abstract available.

PMID:
31305865
9.

FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy.

Hu Z, Zhu Y, Liu X, Zhang W, Liu J, Wu S, Xiao J, Yuan Y, Wang Z.

J Hum Genet. 2019 Sep;64(9):919-926. doi: 10.1038/s10038-019-0627-z. Epub 2019 Jul 4.

PMID:
31273321
10.

Rare diseases in China: analysis of 2014-2015 hospitalization summary reports for 281 rare diseases from 96 tertiary hospitals.

Shi X, Liu H, Zhan S, Wang Z, Wang L, Dong C, Wang Y, Yao C, Ding J, Li Y.

Orphanet J Rare Dis. 2019 Jul 1;14(1):160. doi: 10.1186/s13023-019-1137-y.

11.

Effects of Acute Sacral Neuromodulation at Different Pulse Widths on Bladder Overactivity in Pigs.

Cong H, Liao L, Wang Y, Zhao L, Wang Z, Fu G, Chen G.

Int Neurourol J. 2019 Jun;23(2):109-115. doi: 10.5213/inj.1938042.021. Epub 2019 Jun 30.

12.

[Application of iodine contrast agent optimization protocol with fixed injection time in triple-rule-out CT examination of chest pain].

Hua L, Zhang J, Zhang S, Zhang C, Wang Z, Zhang Y.

Zhonghua Wei Zhong Bing Ji Jiu Yi Xue. 2019 May;31(5):582-587. doi: 10.3760/cma.j.issn.2095-4352.2019.05.012. Chinese.

13.

[Dietary exposure risk assessment of deoxynivalenol of Shandong resident intakes from steamed buns in 2016].

Gong C, Dong F, Liu G, Wang Z, Sun Z.

Wei Sheng Yan Jiu. 2019 Mar;48(2):307-319. Chinese.

PMID:
31133113
14.

Natural killer cells involved in tumour immune escape of hepatocellular carcinomar.

Han C, Jiang Y, Wang Z, Wang H.

Int Immunopharmacol. 2019 Aug;73:10-16. doi: 10.1016/j.intimp.2019.04.057. Epub 2019 May 9. Review.

PMID:
31078921
15.
16.

Congenital muscular dystrophies in China.

Ge L, Zhang C, Wang Z, Chan SHS, Zhu W, Han C, Zhang X, Zheng H, Wu L, Jin B, Shan J, Mao B, Zhong J, Peng X, Cheng Y, Hu J, Sun Y, Lu J, Hua Y, Zhu S, Wei C, Wang S, Jiao H, Yang H, Fu X, Fan Y, Chang X, Wang S, Bao X, Zhang Y, Wang J, Wu Y, Jiang Y, Yuan Y, Rutkowski A, Bönnemann CG, Wei W, Wu X, Xiong H.

Clin Genet. 2019 Sep;96(3):207-215. doi: 10.1111/cge.13560. Epub 2019 Jun 6.

PMID:
31066047
17.

[Clinical and genetic analysis of a patient with Perrault syndrome and additional neurological features].

Duan X, Wang W, Dong M, Wang L, Shao Z, Wang Z, Yuan Y, Wang R, Peng D.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):577-580. doi: 10.3760/cma.j.issn.1003-9406.2019.06.011. Chinese.

PMID:
31055809
18.

Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement.

Ge L, Fu X, Zhang W, Wang D, Wang Z, Yuan Y, Nonaka I, Xiong H.

Neuromuscul Disord. 2019 May;29(5):350-357. doi: 10.1016/j.nmd.2019.03.007. Epub 2019 Mar 14.

PMID:
31053406
19.

Successful removal of multiple magnetic foreign bodies in the digestive tract of children by gastroscopy: Two case reports.

Lyu X, Pi Z, Wang Z, Wu L, Wang L, Pang X.

Medicine (Baltimore). 2019 May;98(18):e15435. doi: 10.1097/MD.0000000000015435.

20.

Yeast Synthetic Terminators: Fine Regulation of Strength through Linker Sequences.

Wang Z, Wei L, Sheng Y, Zhang G.

Chembiochem. 2019 Apr 11. doi: 10.1002/cbic.201900163. [Epub ahead of print]

PMID:
30974044

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