受强制性开放获取政策约束的文章 - Desheng Liang了解详情
无法在其他位置公开访问的文章:23 篇
Targeting of the human F8 at the multicopy rDNA locus in hemophilia A patient-derived iPSCs using TALENickases
J Pang, Y Wu, Z Li, Z Hu, X Wang, X Hu, X Wang, X Liu, M Zhou, B Liu, ...
Biochemical and biophysical research communications 472 (1), 144-149, 2016
强制性开放获取政策: 国家自然科学基金委员会
Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole‐exome sequencing: a retrospective cohort study
L Zhang, L Pan, Y Teng, D Liang, Z Li, L Wu
Clinical genetics 100 (2), 219-226, 2021
强制性开放获取政策: 国家自然科学基金委员会
Clinical and molecular investigation in Chinese patients with glutaric aciduria type I
Y Zhang, H Li, R Ma, L Mei, X Wei, D Liang, L Wu
Clinica Chimica Acta 453, 75-79, 2016
强制性开放获取政策: 国家自然科学基金委员会
Noninvasive prenatal diagnosis for pregnancies at risk for β‐thalassaemia: a retrospective study
W Lv, S Linpeng, Z Li, D Liang, Z Jia, D Meng, DS Cram, H Zhu, Y Teng, ...
BJOG: An International Journal of Obstetrics & Gynaecology 128 (2), 448-457, 2021
强制性开放获取政策: 国家自然科学基金委员会
Noninvasive fetal genotyping in pregnancies at risk for PKU using a comprehensive quantitative cSMART assay for PAH gene mutations: a clinical feasibility study
W Lv, Z Li, X Wei, H Zhu, Y Teng, M Zhou, Y Gong, DS Cram, D Liang, ...
BJOG: An International Journal of Obstetrics & Gynaecology 126 (12), 1466-1474, 2019
强制性开放获取政策: 国家自然科学基金委员会
WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family
C Jiang, N Gai, Y Zou, Y Zheng, R Ma, X Wei, D Liang, L Wu
Clinica Chimica Acta 464, 24-29, 2017
强制性开放获取政策: 国家自然科学基金委员会
Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome
N Gai, C Jiang, YY Zou, Y Zheng, DS Liang, LQ Wu
Clinica Chimica Acta 458, 1-4, 2016
强制性开放获取政策: 国家自然科学基金委员会
Increase in diagnostic yield achieved for 174 whole-exome sequencing cases reanalyzed 1–2 years after initial analysis
Y Liu, Y Teng, Z Li, J Cui, D Liang, L Wu
Clinica Chimica Acta 523, 163-168, 2021
强制性开放获取政策: 国家自然科学基金委员会
Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings
R Zhang, S Linpeng, Z Li, Y Cao, H Tan, D Liang, L Wu
Gene 669, 42-46, 2018
强制性开放获取政策: 国家自然科学基金委员会
A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree
J Xue, Q Gao, Y Huang, X Zhang, P Yang, DS Cram, D Liang, L Wu
Clinica Chimica Acta 461, 135-140, 2016
强制性开放获取政策: 国家自然科学基金委员会
Six novel Mutation analysis of the androgen receptor gene in 17 Chinese patients with androgen insensitivity syndrome
X Jiang, Y Teng, X Chen, N Liang, Z Li, D Liang, L Wu
Clinica Chimica Acta 506, 180-186, 2020
强制性开放获取政策: 国家自然科学基金委员会
Gene therapy for hemophilia and Duchenne muscular dystrophy in China
X Liu, M Liu, L Wu, D Liang
Human Gene Therapy 29 (2), 146-150, 2018
强制性开放获取政策: 国家自然科学基金委员会
Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient
H Li, Y Zhang, X Wei, Y Peng, P Yang, H Tan, C Chen, Q Pan, D Liang, ...
Gene 569 (2), 313-317, 2015
强制性开放获取政策: 国家自然科学基金委员会
Association analysis between chromosomal abnormalities and fetal ultrasonographic soft markers based on 15,263 fetuses
L Pan, J Wu, D Liang, J Yuan, J Wang, Y Shen, J Lu, A Xia, J Li, L Wu
American Journal of Obstetrics & Gynecology MFM 5 (10), 101072, 2023
强制性开放获取政策: 国家自然科学基金委员会
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII
Y Huang, L Mei, W Lv, H Li, R Zhang, Q Pan, H Tan, J Guo, X Luo, ...
Clinica Chimica Acta 464, 170-175, 2017
强制性开放获取政策: 国家自然科学基金委员会
Rapid and sensitive Cas12a-based one-step nucleic acid detection with ssDNA-modified crRNA
Q Zeng, M Zhou, Z Hu, W Deng, Z Li, L Wu, D Liang
Analytica Chimica Acta 1276, 341622, 2023
强制性开放获取政策: 国家自然科学基金委员会
Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization
H Teng, C Liang, D Liang, Z Li, L Wu
Clinica Chimica Acta 523, 297-303, 2021
强制性开放获取政策: 国家自然科学基金委员会
28 novel mutations identified from 33 Chinese patients with cilia-related kidney disorders
N Liang, X Jiang, L Zeng, Z Li, D Liang, L Wu
Clinica Chimica Acta 501, 207-215, 2020
强制性开放获取政策: 国家自然科学基金委员会
A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report
H Tan, X Wei, P Yang, Y Huang, H Li, D Liang, L Wu
Familial Cancer 16, 417-422, 2017
强制性开放获取政策: 国家自然科学基金委员会
Identification of four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemia
Q Zhou, Y Teng, J Pan, Q Shi, Y Liu, F Zhang, D Liang, Z Li, L Wu
Clinica Chimica Acta 531, 48-55, 2022
强制性开放获取政策: 国家自然科学基金委员会
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