受强制性开放获取政策约束的文章 - Vorasuk Shotelersuk了解详情
无法在其他位置公开访问的文章：9 篇
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Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra
I Nitayavardhana, T Theerapanon, C Srichomthong, S Piwluang, ...
Molecular Genetics and Genomics 295, 923-931, 2020
强制性开放获取政策： US National Institutes of Health
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A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel
T Porntaveetus, C Srichomthong, A Ohazama, K Suphapeetiporn, ...
Oral Diseases 23 (6), 795-800, 2017
强制性开放获取政策： US National Institutes of Health
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p. D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease
P Amarinthnukrowh, S Tongkobpetch, A Kongpatanayothin, ...
Genetic testing and molecular biomarkers 14 (6), 835-837, 2010
强制性开放获取政策： US National Institutes of Health
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Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes
W Chetruengchai, V Shotelersuk
Journal of human genetics 67 (3), 137-142, 2022
强制性开放获取政策： US National Institutes of Health
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Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions
C Ittiwut, W Manuyakorn, S Tongkobpetch, S Benjaponpitak, MR Fisher, ...
Journal of clinical immunology 40, 227-231, 2020
强制性开放获取政策： US National Institutes of Health
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Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10
C Manaspon, P Boonsimma, C Phokaew, T Theerapanon, ...
American Journal of Medical Genetics Part A 185 (10), 3068-3073, 2021
强制性开放获取政策： US National Institutes of Health
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DcR3 mutations in patients with juvenile-onset systemic lupus erythematosus lead to enhanced lymphocyte proliferation
C Chokdeemeeboon, P Ammarinthnukrowh, S Tongkobpetch, ...
The Journal of Rheumatology 40 (8), 1316-1326, 2013
强制性开放获取政策： Versus Arthritis, UK
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Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia
W Plengpanich, S Tongkobpetch, V Shotelersuk, W Le Goff, ...
Clinica Chimica Acta 416, 92-95, 2013
强制性开放获取政策： National Institute of Health and Medical Research, France
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Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation
C Ratarat, C Ittiwut, R Natesirinilkul, L Sathitsamitpong, K Fanhchaksai, ...
International Journal of Hematology 110, 640-641, 2019
强制性开放获取政策： UK Medical Research Council
可在其他位置公开访问的文章：38 篇
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Whole-genome sequencing reveals host factors underlying critical COVID-19
A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ...
Nature 607 (7917), 97-103, 2022
强制性开放获取政策： US National Institutes of Health, UK Biotechnology and Biological Sciences …
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Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians
W Yang, H Tang, Y Zhang, X Tang, J Zhang, L Sun, J Yang, Y Cui, ...
The American Journal of Human Genetics 92 (1), 41-51, 2013
强制性开放获取政策： Research Grants Council, Hong Kong
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22q11. 2 deletion syndrome in diverse populations
P Kruszka, YA Addissie, DE McGinn, AR Porras, E Biggs, M Share, ...
American Journal of Medical Genetics Part A 173 (4), 879-888, 2017
强制性开放获取政策： US National Institutes of Health
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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
U Lindert, WA Cabral, S Ausavarat, S Tongkobpetch, K Ludin, AM Barnes, ...
Nature communications 7 (1), 11920, 2016
强制性开放获取政策： Swiss National Science Foundation, US National Institutes of Health
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Down syndrome in diverse populations
P Kruszka, AR Porras, AK Sobering, FA Ikolo, S La Qua, V Shotelersuk, ...
American Journal of Medical Genetics Part A 173 (1), 42-53, 2017
强制性开放获取政策： US National Institutes of Health
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Noonan syndrome in diverse populations
P Kruszka, AR Porras, YA Addissie, A Moresco, S Medrano, GTK Mok, ...
American Journal of Medical Genetics Part A 173 (9), 2323-2334, 2017
强制性开放获取政策： US National Institutes of Health
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Williams–Beuren syndrome in diverse populations
P Kruszka, AR Porras, DH De Souza, A Moresco, V Huckstadt, AD Gill, ...
American Journal of Medical Genetics Part A 176 (5), 1128-1136, 2018
强制性开放获取政策： US National Institutes of Health
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HLAreporter: a tool for HLA typing from next generation sequencing data
Y Huang, J Yang, D Ying, Y Zhang, V Shotelersuk, N Hirankarn, PC Sham, ...
Genome medicine 7, 1-12, 2015
强制性开放获取政策： Research Grants Council, Hong Kong
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Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development
MJ Konjikusic, P Yeetong, CW Boswell, C Lee, EC Roberson, R Ittiwut, ...
PLoS Genetics 14 (11), e1007817, 2018
强制性开放获取政策： US National Institutes of Health
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Cornelia de Lange syndrome in diverse populations
L Dowsett, AR Porras, P Kruszka, B Davis, T Hu, E Honey, E Badoe, ...
American Journal of Medical Genetics Part A 179 (2), 150-158, 2019
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Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
G Butler-Laporte, G Povysil, JA Kosmicki, ET Cirulli, T Drivas, S Furini, ...
PLoS genetics 18 (11), e1010367, 2022
强制性开放获取政策： Swiss National Science Foundation, US National Institutes of Health, US …
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