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Items: 1 to 20 of 115


A COL4A5 missense variant in a Han-Chinese family with X-linked Alport syndrome.

Wu Y, Guo Y, Yuan J, Xu H, Chen Y, Zhang H, Yuan M, Deng H, Yuan L.

Curr Mol Med. 2019 Sep 6. doi: 10.2174/1566524019666190906144214. [Epub ahead of print]


Prognostic Factors and Treatment Strategies for Intrahepatic Cholangiocarcinoma from 2004 to 2013: Population-Based SEER Analysis.

Liu J, Zhong M, Feng Y, Zeng S, Wang Y, Xu H, Zhou H.

Transl Oncol. 2019 Aug 22;12(11):1496-1503. doi: 10.1016/j.tranon.2019.05.020. [Epub ahead of print]


Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.

Huang X, Guo Y, Xu H, Yang Z, Deng X, Deng H, Yuan L.

Mol Genet Genomic Med. 2019 Sep;7(9):e885. doi: 10.1002/mgg3.885. Epub 2019 Jul 23.


Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors.

Wu Y, Guo Y, Yi J, Xu H, Yuan L, Yang Z, Deng H.

Biosci Rep. 2019 Jul 12;39(7). pii: BSR20182198. doi: 10.1042/BSR20182198. Print 2019 Jul 31.


Novel and Recurring NOTCH3 Mutations in Two Chinese Patients with CADASIL.

Chen X, Deng S, Xu H, Hou D, Hu P, Yang Y, Wen J, Deng H, Yuan L.

Neurodegener Dis. 2019;19(1):35-42. doi: 10.1159/000500166. Epub 2019 Jun 18.


Cutting Edge: Probiotics and Fecal Microbiota Transplantation in Immunomodulation.

Zeng W, Shen J, Bo T, Peng L, Xu H, Nasser MI, Zhuang Q, Zhao M.

J Immunol Res. 2019 Apr 16;2019:1603758. doi: 10.1155/2019/1603758. eCollection 2019. Review.


Identification of ESM1 overexpressed in head and neck squamous cell carcinoma.

Xu H, Chen X, Huang Z.

Cancer Cell Int. 2019 May 2;19:118. doi: 10.1186/s12935-019-0833-y. eCollection 2019.


Identifying a BRCA2 c.5722_5723del mutation in a Han-Chinese family with breast cancer.

Guo Y, Wang P, Li X, Zhu S, Xu H, Li S, Deng H, Yuan L.

Biosci Rep. 2019 Apr 30;39(4). pii: BSR20182471. doi: 10.1042/BSR20182471. Print 2019 Apr 30.


Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy.

Xiang Q, Yuan L, Cao Y, Xu H, Li Y, Deng H.

J Ophthalmol. 2019 Feb 19;2019:2824179. doi: 10.1155/2019/2824179. eCollection 2019.


Hemizygous F8 p.G201E mutation identified in a Chinese family with haemophilia A.

Wang P, Yuan L, Chen H, Xu H, Yang Z, Deng S, Deng H.

J Chin Med Assoc. 2019 Jan;82(1):25-29. doi: 10.1097/JCMA.0000000000000002.


COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I.

Wang M, Guo Y, Rong P, Xu H, Gong L, Deng H, Yuan L.

Mol Genet Genomic Med. 2019 May;7(5):e619. doi: 10.1002/mgg3.619. Epub 2019 Mar 4.


GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder.

Xia H, Huang X, Xu H, Zhou YA, Gong L, Yang Z, Lv J, Deng H.

Genet Mol Biol. 2019 Jan-Mar;42(1):48-51. doi: 10.1590/1678-4685-gmb-2017-0318. Epub 2019 Feb 28.


Distribution of metastasis in the brain in relation to the hippocampus: a retrospective single-center analysis of 565 metastases in 116 patients.

Sun Q, Li M, Wang G, Xu H, He Z, Zhou Y, Zhou Y, Zhou Y, Song H, Jiang H.

Cancer Imaging. 2019 Jan 22;19(1):2. doi: 10.1186/s40644-019-0188-6.


A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease.

Xiao H, Huang X, Xu H, Chen X, Xiong W, Yang Z, Deng X, He Z, Deng H.

J Cell Biochem. 2019 Mar;120(3):3630-3636. doi: 10.1002/jcb.27640. Epub 2018 Sep 11.


A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus.

Wu S, Deng S, Song Z, Xu H, Yang Z, Liu X, Qi L, Deng H, Yuan L.

J Mol Neurosci. 2019 Mar;67(3):418-423. doi: 10.1007/s12031-018-1245-5. Epub 2019 Jan 8.


Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease.

Xiang Q, Cao Y, Xu H, Guo Y, Yang Z, Xu L, Yuan L, Deng H.

Biosci Rep. 2019 Jan 15;39(1). pii: BSR20180872. doi: 10.1042/BSR20180872. Print 2019 Jan 31.


The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis.

Fan K, Zhu H, Xu H, Mao P, Yuan L, Deng H.

J Neurol. 2019 Jan;266(1):232-241. doi: 10.1007/s00415-018-9125-z. Epub 2018 Nov 23.


Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.

Xiang Q, Guo Y, Cao Y, Xiong W, Deng X, Xu H, Li Y, Du D, Deng H.

Optom Vis Sci. 2018 Dec;95(12):1155-1161. doi: 10.1097/OPX.0000000000001305.


The Predictive Value of Preoperative High-Sensitive C-Reactive Protein/Albumin Ratio in Systemic Inflammatory Response Syndrome After Percutaneous Nephrolithotomy.

Xu H, Hu L, Wei X, Niu J, Gao Y, He J, Hou J.

J Endourol. 2019 Jan;33(1):1-8. doi: 10.1089/end.2018.0632. Epub 2018 Dec 26.


Synthesis of Silica Microspheres-Inspired by the Formation of Ice Crystals-With High Homogeneous Particle Sizes and Their Applications in Photonic Crystals.

Chen X, Xu H, Hua C, Zhao J, Li Y, Song Y.

Materials (Basel). 2018 Oct 18;11(10). pii: E2017. doi: 10.3390/ma11102017.

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