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Modulating the Folding Landscape of Superoxide Dismutase 1 with Targeted Molecular Binders.
- Published in:
- Angewandte Chemie, 2018, v. 130, n. 21, p. 6320, doi. 10.1002/ange.201802269
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- Publication type:
- Article
Conformational SERS Classification of K-Ras Point Mutations for Cancer Diagnostics.
- Published in:
- Angewandte Chemie, 2017, v. 129, n. 9, p. 2421, doi. 10.1002/ange.201611243
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- Publication type:
- Article
Kit <sup>W-sh</sup> Mutation Prevents Cancellous Bone Loss during Calcium Deprivation.
- Published in:
- 2018
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- Publication type:
- journal article
Mullerian dysgenesis: a critical review of the literature.
- Published in:
- 2017
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- Publication type:
- journal article
Molecular mechanisms of colistin resistance among multi-drug resistant (MDR) Klebsiella pneumoniae and Escherichia coli isolated from ICU patients and their susceptibility towards eravacycline.
- Published in:
- Microbes & Infectious Diseases, 2023, v. 4, n. 1, p. 127, doi. 10.21608/MID.2022.156338.1368
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- Publication type:
- Article
Eye movement and vestibular dysfunction in mitochondrial A3243G mutation.
- Published in:
- 2016
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- Publication type:
- journal article
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease.
- Published in:
- 2014
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- Publication type:
- Letter
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.
- Published in:
- Neurological Sciences, 2014, v. 35, n. 3, p. 443, doi. 10.1007/s10072-013-1557-8
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- Publication type:
- Article
Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature.
- Published in:
- 2013
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- Publication type:
- Letter
The Clinical and Molecular Cytogenetic Analyses of Six Patients with Pelizaeus-Merzbacher Disease From Four Families.
- Published in:
- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2023, v. 17, n. 6, p. 445, doi. 10.12956/tchd.1275274
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- Publication type:
- Article
Author Correction: Structure-based design and discovery of novel anti-tissue factor antibodies with cooperative double-point mutations, using interaction analysis.
- Published in:
- 2021
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- Publication type:
- Correction Notice
A Highly Efficient CRISPR-Cas9-Mediated Large Genomic Deletion in Bacillus subtilis.
- Published in:
- Frontiers in Microbiology, 2017, p. 1, doi. 10.3389/fmicb.2017.01167
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- Publication type:
- Article
A DegU-P and DegQ-Dependent Regulatory Pathway for the K-state in Bacillus subtilis.
- Published in:
- Frontiers in Microbiology, 2016, v. 7, p. 1, doi. 10.3389/fmicb.2016.01868
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- Publication type:
- Article
Resistance Assessment for Oxathiapiprolin in Phytophthora capsici and the Detection of a Point Mutation (G769W) in PcORP1 that Confers Resistance.
- Published in:
- Frontiers in Microbiology, 2016, p. 1, doi. 10.3389/fmicb.2016.00615
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- Publication type:
- Article
Macrolide-Resistant Mycoplasma pneumoniae, United States.
- Published in:
- Emerging Infectious Diseases, 2015, v. 21, n. 8, p. 1470, doi. 10.3201/eid2108.150273
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- Publication type:
- Article
Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations.
- Published in:
- Gene Therapy, 2015, v. 22, n. 5, p. 413, doi. 10.1038/gt.2014.128
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- Publication type:
- Article
Generalizing rate heterogeneity across sites in statistical phylogenetics.
- Published in:
- Statistical Modelling: An International Journal, 2020, v. 20, n. 4, p. 410, doi. 10.1177/1471082X19829937
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- Publication type:
- Article
Jasmonate-responsive MYB factors spatially repress rutin biosynthesis in Fagopyrum tataricum.
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- Journal of Experimental Botany, 2018, v. 69, n. 8, p. 1955, doi. 10.1093/jxb/ery032
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- Publication type:
- Article
Transcriptional and hormonal regulation of petal and stamen development by STAMENLESS, the tomato (Solanum lycopersicum L.) orthologue to the B-class APETALA3 gene.
- Published in:
- Journal of Experimental Botany, 2014, v. 65, p. 1
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- Publication type:
- Article
Urea Unfolding Study of E. coli Alanyl-tRNA Synthetase and Its Monomeric Variants Proves the Role of C-Terminal Domain in Stability.
- Published in:
- Journal of Amino Acids, 2015, p. 1, doi. 10.1155/2015/805681
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- Publication type:
- Article
Dissection of the sensor domain of the copper-responsive histidine kinase CorS from Myxococcus xanthus.
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- Environmental Microbiology Reports, 2016, v. 8, n. 3, p. 363, doi. 10.1111/1758-2229.12389
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- Publication type:
- Article
NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 1, p. 111, doi. 10.1111/cge.13089
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- Publication type:
- Article
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
- Published in:
- Clinical Genetics, 2017, v. 91, n. 5, p. 697, doi. 10.1111/cge.12861
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- Publication type:
- Article
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 5, p. 431, doi. 10.1111/cge.12537
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- Publication type:
- Article
MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 5, p. 467, doi. 10.1111/j.1399-0004.2012.01955.x
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- Publication type:
- Article
Association of a novel point mutation in MSH2 gene with familial multiple primary cancers.
- Published in:
- Journal of Hematology & Oncology, 2017, v. 10, p. 1, doi. 10.1186/s13045-017-0523-y
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- Publication type:
- Article
Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.
- Published in:
- 2018
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- Publication type:
- Case Study
Conformational SERS Classification of K-Ras Point Mutations for Cancer Diagnostics.
- Published in:
- Angewandte Chemie International Edition, 2017, v. 56, n. 9, p. 2381, doi. 10.1002/anie.201611243
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- Publication type:
- Article
Intrinsic Allosteric Inhibition of Signaling Proteins by Targeting Rare Interaction States Detected by High-Pressure NMR Spectroscopy.
- Published in:
- Angewandte Chemie International Edition, 2013, v. 52, n. 52, p. 14242, doi. 10.1002/anie.201305741
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- Publication type:
- Article
Analysis of ATP6 sequence diversity in the Triticum- Aegilops species group reveals the crucial role of rearrangement in mitochondrial genome evolution.
- Published in:
- Genome, 2014, v. 57, n. 5, p. 279, doi. 10.1139/gen-2014-0024
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- Publication type:
- Article
Effects of KEAP1 Silencing on the Regulation of NRF2 Activity in Neuroendocrine Lung Tumors.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 10, p. 2531, doi. 10.3390/ijms20102531
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- Publication type:
- Article
In Silico Study of the Resistance to Organophosphorus Pesticides Associated with Point Mutations in Acetylcholinesterase of Lepidoptera: B. mandarina, B. mori, C. auricilius, C. suppressalis, C. pomonella, H. armígera, P. xylostella, S. frugiperda, and S. litura
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 10, p. 2404, doi. 10.3390/ijms20102404
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- Publication type:
- Article
Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 12, p. 4012, doi. 10.3390/ijms19124012
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- Publication type:
- Article
Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 10, p. 3099, doi. 10.3390/ijms19103099
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- Publication type:
- Article
Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 10, p. 2208, doi. 10.3390/ijms18102208
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- Publication type:
- Article
L1198F Mutation Resensitizes Crizotinib to ALK by Altering the Conformation of Inhibitor and ATP Binding Sites.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 3, p. 482, doi. 10.3390/ijms18030482
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- Publication type:
- Article
SAAFEC: Predicting the Effect of Single Point Mutations on Protein Folding Free Energy Using a Knowledge-Modified MM/PBSA Approach.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 4, p. 512, doi. 10.3390/ijms17040512
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- Publication type:
- Article
Destabilization of the TWIST1/E12 complex dimerization following the R154P point-mutation of TWIST1: an in silico approach.
- Published in:
- BMC Structural Biology, 2017, p. 1, doi. 10.1186/s12900-017-0076-x
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- Publication type:
- Article
Pathological mutations differentially affect the self-assembly and polymerisation of the innate immune system signalling adaptor molecule MyD88.
- Published in:
- BMC Biology, 2018, v. 16, n. 1, p. 1, doi. 10.1186/s12915-018-0611-7
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- Publication type:
- Article
DeepGene: an advanced cancer type classifier based on deep learning and somatic point mutations.
- Published in:
- BMC Bioinformatics, 2016, v. 17, p. 243, doi. 10.1186/s12859-016-1334-9
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- Publication type:
- Article
Identifying low-level sequence variants via next generation sequencing to aid stable CHO cell line screening.
- Published in:
- Biotechnology Progress, 2015, v. 31, n. 4, p. 1077, doi. 10.1002/btpr.2119
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- Publication type:
- Article
Discovery of a novel HLA- DRB1*04:05 variant, DRB1*04:05:15, in a Taiwanese and the probable HLA haplotype in association with DRB1*04:05:15.
- Published in:
- International Journal of Immunogenetics, 2013, v. 40, n. 5, p. 396, doi. 10.1111/iji.12043
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- Publication type:
- Article
Discovery of HLA- DRB1*03:20 allele in a Taiwanese volunteer hematopoietic stem cell donor and the probable HLA- A, - B, - C and - DRB1 haplotype in association with DRB1*03:20.
- Published in:
- International Journal of Immunogenetics, 2013, v. 40, n. 3, p. 243, doi. 10.1111/j.1744-313X.2012.01151.x
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- Publication type:
- Article
Recognition of HLA- A*24:137 allele in a Taiwanese unrelated bone marrow stem cell donor and the plausible HLA haplotype associated with A*24:137.
- Published in:
- International Journal of Immunogenetics, 2012, v. 39, n. 6, p. 530, doi. 10.1111/j.1744-313X.2012.01134.x
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- Publication type:
- Article
Discovery of the novel HLA-DRB1*03:77 allele in a Taiwanese unrelated hematopoietic stem cell donor by a sequence-based typing method and identification of the probable HLA haplotype in association with DRB1*03:77.
- Published in:
- International Journal of Immunogenetics, 2012, v. 39, n. 5, p. 442, doi. 10.1111/j.1744-313X.2012.01110.x
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- Publication type:
- Article
Genetic analyses led to the discovery of a super-active mutant of the RNA polymerase I.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008157
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- Publication type:
- Article
Deleterious mitochondrial DNA point mutations are overrepresented in Drosophila expressing a proofreading-defective DNA polymerase γ.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007805
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- Publication type:
- Article
Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 2, p. 580, doi. 10.1172/JCI71861
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- Publication type:
- Article
Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 7, p. 2613, doi. 10.1172/JCI63415
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- Publication type:
- Article
mRNA association by aminoacyl tRNA synthetase occurs at a putative anticodon mimic and autoregulates translation in response to tRNA levels.
- Published in:
- PLoS Biology, 2019, v. 17, n. 5, p. 1, doi. 10.1371/journal.pbio.3000274
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- Publication type:
- Article