Works matching DE "GENETIC variation"
Results: 5000
DNAH9 variants in children with post-infectious bronchiolitis/bronchitis obliterans.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03616-4
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A novel c.59 C > T variant of the HSD17B10 gene as a possible cause of the neonatal form of HSD10 mitochondrial disease with hepatic dysfunction: a case report and review of the literature.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03513-2
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Comprehensive analysis of TMEM9 in human tumors.
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- Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02040-1
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Biliary, Renal, Neurological, and Skeletal syndrome in a Chinese boy.
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- Pediatric Nephrology, 2025, v. 40, n. 4, p. 947, doi. 10.1007/s00467-024-06591-3
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The causal relationship between hepatitis B, immunophenotypes and liver cancer: a Mendelian randomization study.
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- Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02023-2
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Divergent evolutionary paces among eudicot plants revealed by simultaneously duplicated genes produced billions of years ago.
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- Frontiers in Plant Science, 2025, p. 1, doi. 10.3389/fpls.2025.1518981
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Evaluation of Growth and Physio-Biochemical Performance of Wheat Cultivars Under Alkaline Stress Conditions using a Shotgun Approach.
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- Polish Journal of Environmental Studies, 2025, v. 34, n. 3, p. 2555, doi. 10.15244/pjoes/188152
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Ascertaining the Robust Drought Tolerant Wheat Germplasm for Sustainable Agriculture.
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- Polish Journal of Environmental Studies, 2025, v. 34, n. 3, p. 2991, doi. 10.15244/pjoes/188698
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Molecular detection of a novel mutation in the TPO gene associated with congenital hypothyroidism in a cat: Case report.
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- Journal of Advanced Veterinary & Animal Research, 2024, v. 11, n. 4, p. 1030, doi. 10.5455/javar.2024.k854
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Molecular study and phylogenetic analysis of hemotropic Mycoplasma in Baghdad province, Iraq.
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- Open Veterinary Journal, 2024, v. 14, n. 12, p. 3417, doi. 10.5455/OVJ.2024.v14.i12.26
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A bibliometric analysis of six decades of camel research in North Africa: Trends, collaboration, and emerging themes.
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- Open Veterinary Journal, 2024, v. 14, n. 12, p. 3505, doi. 10.5455/OVJ.2024.v14.i12.34
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Partial and complete sequence of small and large subunit ribosomal RNA genes, tRNA-Val gene in some species of family Labridae.
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- Open Veterinary Journal, 2024, v. 14, n. 12, p. 3336, doi. 10.5455/OVJ.2024.v14.i12.18
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Evaluation of Yield Contributing Traits in Coriander (Coriandrum sativum L.) Varieties under Drought Conditions.
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- Legume Research: An International Journal, 2025, v. 48, n. 2, p. 322, doi. 10.18805/LR-4941
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Transferability of Simple Sequence Repeat Markers from other Members of Family Fabaceae to Chickpea (Cicer arietinum L.).
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- Legume Research: An International Journal, 2025, v. 48, n. 2, p. 254, doi. 10.18805/LR-4859
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Genotyping of HF Crossbred Breeding Bulls for A1/A2 Variant of β-Casein Gene.
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- Indian Journal of Animal Research, 2025, v. 59, n. 2, p. 198, doi. 10.18805/IJAR.B-4726
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Pseudomonas aeruginosa: One Health approach to deciphering hidden relationships in Northern Portugal.
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- Journal of Applied Microbiology, 2025, v. 136, n. 2, p. 1, doi. 10.1093/jambio/lxaf037
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DECA: harnessing interpretable transformer model for cellular deconvolution of chromatin accessibility profile.
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- Briefings in Bioinformatics, 2025, v. 26, n. 1, p. 1, doi. 10.1093/bib/bbaf069
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ViTax: adaptive hierarchical viral taxonomy classification with a taxonomy belief tree on a foundation model.
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- Briefings in Bioinformatics, 2025, v. 26, n. 1, p. 1, doi. 10.1093/bib/bbaf041
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Family-based genetics identifies association of CUBN, IL1RL1 and PRKN variants with leprosy in Bangladesh.
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- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-91995-w
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A Comparison of Apelin Rs56204867 and Apelin Receptor Rs11544374 Gene Polymorphisms and Their Association with Risk of Preeclampsia in Southeast Iran.
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- Reports of Biochemistry & Molecular Biology, 2024, v. 13, n. 2, p. 273, doi. 10.61186/rbmb.13.2.273
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Analysis of mutations in mitochondrial transfer RNA genes and the maternal inheritance of polycystic ovary syndrome.
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- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1509791
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EndoGene database: reported genetic variants for 5,926 Russian patients diagnosed with endocrine disorders.
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- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1472754
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Identification of common genetic variants in KCNQ family genes associated with gastric cancer survival in a Chinese population.
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- Journal of Biomedical Research, 2025, v. 39, n. 1, p. 76, doi. 10.7555/JBR.38.20240040
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Genetic variants and mRNA expression levels of KLF4 and KLF5 with hypertension: A combination of case-control study and cohort study.
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- Journal of Biomedical Research, 2025, v. 39, n. 1, p. 103, doi. 10.7555/JBR.38.20240208
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Dissecting the causal effects of smoking, alcohol consumption, and related DNA methylation markers on electrocardiographic indices.
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- Clinical Epigenetics, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13148-025-01851-x
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Comparative mutagenic analysis in M1 generation of mungbean (Vigna radiata (L.) Wilczek).
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- Journal of Tropical Agriculture, 2024, v. 62, n. 2, p. 265
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Оценка по добив и качество на напреднали линии твърда пшеница, получени по метода на отдалечената хибридизация.
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- Bulgarian Journal of Crop Science / Rastenievdni Nauki, 2025, v. 62, n. 1, p. 3, doi. 10.61308/CJNU6516
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Novel variant in WT1 gene associated with MGD and unique kidney disease phenotype.
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- Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00070-5
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Case report: A novel intronic JMJD6 likely pathogenic variant (c.941+75G > T) associated with congenital eyelid coloboma in one of the identical twin sisters.
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- Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1536000
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Assessing mutation accumulation in DNA repair-deficient Listeria monocytogenes : implications for cgMLST cluster thresholds in outbreak analysis.
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- Frontiers in Cellular & Infection Microbiology, 2025, p. 1, doi. 10.3389/fcimb.2025.1530851
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Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings.
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- International Journal of Neuroscience, 2025, v. 135, n. 3, p. 358, doi. 10.1080/00207454.2023.2300735
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Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.
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- BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-024-02058-4
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Exploring the relationship between Plasmodium falciparum genetic diversity and antimalarial drugs resistance markers in a malaria-endemic region of Burkina Faso.
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- Pan African Medical Journal, 2024, v. 48, p. 1, doi. 10.11604/pamj.2024.48.118.43505
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Intra- and interbreed genetic heterogeneity and divergence in four commercial pig breeds based on microsatellite markers.
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- Regulatory Mechanisms in Biosystems, 2021, v. 12, n. 1, p. 128, doi. 10.15421/022120
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Genetic diversity of Ukrainian local pig breeds based on microsatellite markers.
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- Regulatory Mechanisms in Biosystems, 2018, v. 9, n. 2, p. 177, doi. 10.15421/021826
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Conservation genomics uncovers disjunct subspecies and critically low diversity in Zieria obcordata A.Cunn. (Rutaceae).
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- Australian Systematic Botany, 2025, v. 38, n. 1, p. 1, doi. 10.1071/SB24034
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Integrative analysis of seed morphology, geographic origin, and genetic structure in Medicago with implications for breeding and conservation.
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- BMC Plant Biology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12870-025-06304-4
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Revisiting Phryma leptostachya L.: phylogenetic relationships and biogeographical patterns from complete plastome.
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- BMC Plant Biology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12870-025-06272-9
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Assessing the association between ADH5 and ALDH1A1 genetic variants and substance use disorder risk in a Jordanian male population.
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- BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11379-2
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Distribution and phylogenetic analysis of porcine parvoviruses in the wild boar population of Russia.
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- BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11371-w
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Genetic analysis of quality protein maize (QPM): a review.
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- Cereal Research Communications, 2025, v. 53, n. 1, p. 81, doi. 10.1007/s42976-024-00552-0
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Development of sheath blight resistant genotype of rice by mutation breeding and gene expression profiling after inoculation of Rhizoctonia solani.
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- Cereal Research Communications, 2025, v. 53, n. 1, p. 483, doi. 10.1007/s42976-024-00533-3
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Allelic variation and genetic diversity of low-molecular-weight glutenin subunit- and α/β-gliadin encoding genes in tetraploid wheat.
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- Cereal Research Communications, 2025, v. 53, n. 1, p. 167, doi. 10.1007/s42976-024-00527-1
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Population structure and SNP detection for phytic acid, Fe and Zn in sorghum (Sorghum bicolor [L.] Moench).
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- Cereal Research Communications, 2025, v. 53, n. 1, p. 127, doi. 10.1007/s42976-024-00520-8
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Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants.
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- European Journal of Endocrinology, 2025, v. 192, n. 2, p. 110, doi. 10.1093/ejendo/lvaf015
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The G allele of the rs4344 polymorphism of the angiotensin-converting enzyme gene is associated with alanine aminotransferase (ALT) and gamma glutamyl transferase (GGT) in Brazilian hypertensive patients.
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- Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10386-6
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Genetic spectrum and genotype–phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03596-5
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An isolated 17,20-lyase deficiency patient achieved a successful live birth after in vitro fertilization: a case report and narrative review.
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- Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 2, p. 679, doi. 10.1007/s10815-024-03366-5
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Establishment and Molecular Validation of a Lima Bean (Phaseolus lunatus) Core Collection in Brazil.
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- Plant Molecular Biology Reporter, 2025, v. 43, n. 1, p. 286, doi. 10.1007/s11105-024-01486-x
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Molecular Diversity Studies and Core Development in Sesame Germplasm (Sesamum indicum L.) Using SSR Markers.
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- Plant Molecular Biology Reporter, 2025, v. 43, n. 1, p. 180, doi. 10.1007/s11105-024-01476-z
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