受强制性开放获取政策约束的文章 - Qiongfen Lin了解详情
可在其他位置公开访问的文章:10 篇
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls
Y Yuan, Q Li, Y Su, Q Lin, X Gao, H Liu, S Huang, D Kang, NW Todd, ...
European Journal of Human Genetics 28 (2), 231-243, 2020
强制性开放获取政策: US National Institutes of Health, 国家自然科学基金委员会
Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss
X Gao, YY Yuan, QF Lin, JC Xu, WQ Wang, YH Qiao, DY Kang, D Bai, ...
Journal of medical genetics 55 (5), 298-306, 2018
强制性开放获取政策: 国家自然科学基金委员会
Further evidence for “gain-of-function” mechanism of DFNA5 related hearing loss
H Wang, J Guan, L Guan, J Yang, K Wu, Q Lin, W Xiong, L Lan, C Zhao, ...
Scientific reports 8 (1), 8424, 2018
强制性开放获取政策: 国家自然科学基金委员会
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1
P Hu, S Wu, L Yuan, Q Lin, W Zheng, H Xia, H Xu, L Guan, H Deng
Journal of cellular and molecular medicine 21 (7), 1388-1393, 2017
强制性开放获取政策: 国家自然科学基金委员会
Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type Ic using exome sequencing
H Deng, T Tan, Q He, Q Lin, Z Yang, A Zhu, L Guan, J Xiao, Z Song, ...
Molecular medicine reports 16 (1), 473-477, 2017
强制性开放获取政策: 国家自然科学基金委员会
Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing
L Yuan, J Yi, Q Lin, H Xu, X Deng, W Xiong, J Xiao, C Jiang, X Yuan, ...
QJM: An International Journal of Medicine 109 (11), 731-735, 2016
强制性开放获取政策: 国家自然科学基金委员会
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing
H Deng, Q Lu, H Xu, X Deng, L Yuan, Z Yang, Y Guo, Q Lin, J Xiao, ...
PLoS One 11 (5), e0155908, 2016
强制性开放获取政策: 国家自然科学基金委员会
Identified OAS 3 gene variants associated with coexistence of HB sAg and anti‐HB s in chronic HBV infection
S Wang, J Wang, MJ Fan, TY Li, H Pan, X Wang, HK Liu, QF Lin, ...
Journal of viral hepatitis 25 (8), 904-910, 2018
强制性开放获取政策: US National Institutes of Health, 国家自然科学基金委员会
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome
L Wang, QF Lin, HY Wang, J Guan, L Lan, LY Xie, L Yu, J Yang, C Zhao, ...
Chinese Medical Journal 130 (06), 703-709, 2017
强制性开放获取政策: 国家自然科学基金委员会
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors
CSM Tang, M Mononen, WY Lam, SC Jin, X Zhuang, MM Garcia-Barcelo, ...
JCI insight 7 (2), 2022
强制性开放获取政策: US National Institutes of Health, Knut and Alice Wallenberg Foundation …
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