Works matching DE "GENETIC variation"
Results: 5000
Whole exome sequencing revealed ultra-rare genetic variations in juvenile myoclonic epilepsy.
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- Neurological Sciences, 2025, v. 46, n. 2, p. 899, doi. 10.1007/s10072-024-07874-1
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- Article
Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene.
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- Neurological Sciences, 2025, v. 46, n. 2, p. 911, doi. 10.1007/s10072-024-07834-9
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- Article
HSD17B4 mutation: an unusual cause of cerebellar ataxia.
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- 2025
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- Publication type:
- Letter
Detection of human noroviruses in sewage by next generation sequencing in Shandong Province, 2019–2021.
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- Virology Journal, 2025, v. 22, n. 1, p. 1, doi. 10.1186/s12985-025-02638-5
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- Article
Genetic diversity of Plasmodium falciparum reticulocyte binding protein homologue-5, which is a potential malaria vaccine candidate: baseline data from areas of varying malaria endemicity in Mainland Tanzania.
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- Malaria Journal, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12936-025-05269-x
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- Article
Human genetic diversity and income inequality.
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- Economics & Business Letters, 2024, v. 13, n. 4, p. 183, doi. 10.17811/ebl.13.4.2024.183-193
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- Article
Exploring the association between adaptive and growth traits and within-individual genetic diversity in common beech ( Fagus sylvatica).
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- Annals of Forest Research (1844-8135), 2024, v. 67, n. 2, p. 151, doi. 10.15287/afr.2024.3885
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- Article
Diallel crossing (10x10) in Swiss stone pine. Juvenileadult correlations and genetic gain for predicting forward selection.
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- Annals of Forest Research (1844-8135), 2024, v. 67, n. 2, p. 109, doi. 10.15287/afr.2024.3770
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- Article
A prospective pragmatic evaluation of automatic trial matching tools in a molecular tumor board.
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- NPJ Precision Oncology, 2025, v. 9, n. 1, p. 1, doi. 10.1038/s41698-025-00806-y
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- Article
Association of LPCAT1-rs8352 genetic variant with susceptibility and severity of pediatric bronchial asthma: a case-control study.
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- 2025
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- Publication type:
- Case Study
Convergent geographic patterns between grizzly bear population genetic structure and Indigenous language groups in coastal British Columbia, Canada.
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- Ecology & Society, 2021, v. 26, n. 3, p. 130, doi. 10.5751/ES-12443-260307
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- Article
Toward understanding the governance of varietal and genetic diversity.
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- Ecology & Society, 2021, v. 26, n. 2, p. 1, doi. 10.5751/ES-12333-260228
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- Article
A new era of genetic diversity conservation through novel tools and accessible data.
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- Frontiers in Ecology & the Environment, 2024, v. 22, n. 4, p. 1, doi. 10.1002/fee.2740
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- Article
Toward a predictable cask theory of species extinction assessment in the Anthropocene.
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- Frontiers in Ecology & the Environment, 2024, v. 22, n. 3, p. 1, doi. 10.1002/fee.2714
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- Article
Clinical manifestations of Johanson-Blizzard syndrome in a patient with nucleotide variants in the UBR1 gene.
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- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 88, n. 10, p. 885, doi. 10.2298/VSP220803003J
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- Article
Early-onset ischaemic stroke in a patient with the novel F2 c.1824C>T gene variant and PAI-1 4G/4G, MTHFR 677TT genotype.
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- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2022, v. 79, n. 10, p. 1039, doi. 10.2298/VSP210323066P
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- Article
Soil Biota in a Nonnative Range has a Net Positive Effect on the Perennial Herb Lupinus polyphyllus.
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- Ohio Journal of Science, 2023, v. 123, n. 2, p. 2, doi. 10.18061/ojs.v123i2.9219
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- Article
Modification Effects of Homologous Recombination Repair Gene Polymorphisms on the Associations Between Urinary Metals and Breast Cancer Risk.
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- Biological Trace Element Research, 2025, v. 203, n. 2, p. 694, doi. 10.1007/s12011-024-04215-3
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- Article
Genetic Determinants of Selenium Availability, Selenium-Response, and Risk of Polycystic Ovary Syndrome.
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- Biological Trace Element Research, 2024, v. 202, n. 11, p. 4843, doi. 10.1007/s12011-023-04052-w
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- Article
Possible Association Between Polymorphisms in ESR1, COL1A2, BGLAP, SPARC, VDR, and MMP2 Genes and Dental Fluorosis in a Population from an Endemic Region of West Bengal.
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- Biological Trace Element Research, 2022, v. 200, n. 11, p. 4641, doi. 10.1007/s12011-021-03072-8
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- Article
Molecular diagnostic of surfactant deficiency intersticial lung disease: A case report with necropsy correlation.
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- Patologia Revista Latinoamericana, 2021, v. 59, p. 1, doi. 10.24245/patrl.v59id.4897
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- Article
Molecular diagnostic of surfactant deficiency intersticial lung disease: A case report with necropsy correlation.
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- Patologia Revista Latinoamericana, 2021, v. 59, p. 1, doi. 10.24245/patrl.v59id.4996
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- Article
Phylogeographical patterns in the northwestern European moss Scorpidium revolvens (Sw. ex Anonymo) Rubers (Scorpidiaceae, Bryophyta).
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- Journal of Bryology, 2023, v. 45, n. 4, p. 265, doi. 10.1080/03736687.2024.2318161
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- Article
Isolation, characterisation and cross-species transferability of microsatellite markers for Riella macrocarpa (P.Allorge) Puche et al. (Riellaceae, Sphaerocarpales).
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- Journal of Bryology, 2022, v. 44, n. 2, p. 140, doi. 10.1080/03736687.2022.2123905
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- Article
Solving quantum circuit compilation problem variants through genetic algorithms.
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- Natural Computing, 2023, v. 22, n. 4, p. 631, doi. 10.1007/s11047-023-09955-0
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- Article
Cutaneous Mucormycosis and Fusariosis in a Chinese Woman with CARD9 Deficiency.
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- 2023
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- Publication type:
- Case Study
Long-read Sequencing and de novo Genome Assembly of Three Aspergillus fumigatus Genomes.
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- Mycopathologia, 2023, v. 188, n. 4, p. 409, doi. 10.1007/s11046-023-00740-2
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- Article
Genotypic Diversity and Antifungal Susceptibility of Clinical Isolates of Cryptococcus Gattii Species Complex from Argentina.
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- Mycopathologia, 2023, v. 188, n. 1/2, p. 51, doi. 10.1007/s11046-022-00705-x
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- Article
Molecular Phylogenetic Analysis of Candida krusei.
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- Mycopathologia, 2022, v. 187, n. 4, p. 333, doi. 10.1007/s11046-022-00640-x
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- Article
PbGP43 Genotyping Using Paraffin-Embedded Biopsies of Human Paracoccidioidomycosis Reveals a Genetically Distinct Lineage in the Paracoccidioides brasiliensis Complex.
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- Mycopathologia, 2022, v. 187, n. 2/3, p. 157, doi. 10.1007/s11046-021-00608-3
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- Article
Nanopore Genome Sequencing and Variant Analysis of the Susceptible Candida auris Strain L1537/2020, Salvador, Brazil.
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- Mycopathologia, 2021, v. 186, n. 6, p. 883, doi. 10.1007/s11046-021-00593-7
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- Article
Fiuncho: a program for any-order epistasis detection in CPU clusters.
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- Journal of Supercomputing, 2022, v. 78, n. 13, p. 15338, doi. 10.1007/s11227-022-04477-5
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- Article
Using UAV-based hyperspectral imaging and functional regression to assist in predicting grain yield and related traits in wheat under heat-related stress environments for the purpose of stable yielding genotypes.
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- Precision Agriculture, 2022, v. 23, n. 2, p. 622, doi. 10.1007/s11119-021-09852-5
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- Article
Quantification of dwarfing effect of different rootstocks in 'Picual' olive cultivar using UAV-photogrammetry.
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- Precision Agriculture, 2022, v. 23, n. 1, p. 178, doi. 10.1007/s11119-021-09832-9
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- Article
A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C.
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- Journal of Muscle Research & Cell Motility, 2021, v. 42, n. 2, p. 323, doi. 10.1007/s10974-020-09592-5
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- Article
Genetic diversity assessment of Palestinian safflower (Carthamus tinctorius L.) utilizing DAMD molecular markers.
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- Biotechnology Letters, 2024, v. 46, n. 6, p. 1293, doi. 10.1007/s10529-024-03538-4
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- Article
Assessment of population structure, genetic diversity and relationship of Mediterranean olive accessions using SSR markers and computational tools.
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- Biotechnology Letters, 2022, v. 44, n. 1, p. 113, doi. 10.1007/s10529-021-03204-z
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- Article
Mendelian randomization study on the causal effects of COVID‐19 on childhood intelligence.
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- Journal of Medical Virology, 2022, v. 94, n. 7, p. 3233, doi. 10.1002/jmv.27736
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- Article
Analysis of HIV‐1 integrase genotypes and polymorphisms among integrase inhibitors‐based antiretroviral treatment naïve patients in South Sudan.
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- Journal of Medical Virology, 2022, v. 94, n. 7, p. 3320, doi. 10.1002/jmv.27713
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- Article
Genetic variation of E6, E7, and L1 genes of human papillomavirus 51 from central China.
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- Journal of Medical Virology, 2022, v. 94, n. 6, p. 2811, doi. 10.1002/jmv.27603
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- Article
Genetic diversity of rotavirus strains circulating in Norway before and after the introduction of rotavirus vaccination in children.
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- Journal of Medical Virology, 2022, v. 94, n. 6, p. 2624, doi. 10.1002/jmv.27484
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- Article
Role of genetic variants and host polymorphisms on COVID‐19: From viral entrance mechanisms to immunological reactions.
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- Journal of Medical Virology, 2022, v. 94, n. 5, p. 1846, doi. 10.1002/jmv.27615
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- Article
SARS‐CoV‐2 variant with mutations in N gene affecting detection by widely used PCR primers.
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- 2022
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- Case Study
The global epidemic of SARS‐CoV‐2 variants and their mutational immune escape.
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- Journal of Medical Virology, 2022, v. 94, n. 3, p. 847, doi. 10.1002/jmv.27376
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- Article
Molecular evolution and genomic characteristics of genotype H1 of measles virus.
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- Journal of Medical Virology, 2022, v. 94, n. 2, p. 521, doi. 10.1002/jmv.27448
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- Article
The influence of IL1RN VNTR polymorphism on HPV infection among some tribal communities.
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- Journal of Medical Virology, 2022, v. 94, n. 2, p. 752, doi. 10.1002/jmv.27436
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- Article
Genetic variation in the E6 and E7 genes of human papillomavirus type 16 in northeastern Argentina.
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- Journal of Medical Virology, 2022, v. 94, n. 2, p. 745, doi. 10.1002/jmv.27359
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- Article
Detection of a novel species A, DS‐1‐like, G4P[6] rotavirus strain from a Brazilian child with gastroenteritis.
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- Journal of Medical Virology, 2022, v. 94, n. 2, p. 610, doi. 10.1002/jmv.27283
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- Article
The variants question: What is the problem?
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- Journal of Medical Virology, 2021, v. 93, n. 12, p. 6479, doi. 10.1002/jmv.27196
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- Article
Genetic variants of APEX1 p.Asp148Glu and XRCC1 p.Gln399Arg with the susceptibility of hepatocellular carcinoma.
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- Journal of Medical Virology, 2021, v. 93, n. 11, p. 6278, doi. 10.1002/jmv.27217
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- Article