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8601
Diagnostic challenges in the diagnosis and treatment of ovarian cancer in Lynch syndrome
Published 2025-01-01“… Introduction and purpose Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominant genetic disorder characterized by a significantly increased risk of developing various malignancies, including ovarian cancer. …”
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8602
Multiple Components of the VHL Tumor Suppressor Complex Are Frequently Affected by DNA Copy Number Loss in Pheochromocytoma
Published 2014-01-01“…Indeed, little is known about genetic mechanisms disrupting other complex component genes. …”
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8603
Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation
Published 2024-11-01“…We provide an in-depth analysis of their clinical, genetic, immunological and treatment characteristic, noting that these patients exhibited an atypical clinical phenotype when compared to reported CXCR4R334X patients. …”
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8604
Genomic insights into pigeon breeding: GWAS for economic traits and the development of a high-throughput liquid phase array chip
Published 2025-03-01“…This study integrates phenotypic data from Tarim pigeons and White King pigeons with genomic information, using genome-wide association analysis (GWAS) to identify genetic markers associated with key economic traits, thereby accelerating the breeding process. …”
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8605
Chromosome-level genome assembly and annotation of Barbel chub Squaliobarbus curriculus
Published 2024-12-01“…Overall, the chromosome-level genome of S. curriculus will provide valuable genomic resources for genetic breeding, population genomics, sex-related marker identifications, and other future studies.…”
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8606
Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
Published 2025-01-01“… Introduction: Genodermatoses refer to a group of heterogenous rare genetic diseases with cutaneous expression. Several genodermatoses present with multisystem involvement that can range from mild to life-threatening conditions leading to increased morbidity and mortality. …”
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8607
Multivariate Regression Analyses of Yield Associated Traits in Rapeseed (Brassica napus L.) Genotypes
Published 2014-01-01“…Significant genotypic effects were found for phenological traits, yield components, and seed yield, indicating significant genetic differences among the genotypes. High broad sense heritability was estimated for phenological traits, seeds per pod, and seed yield, signifying high selection gain for improving these traits. …”
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8608
Chromosome-level genome assembly of Salvia sclarea
Published 2025-01-01“…Despite its extensive use, the genetic mechanisms of S. sclarea are not well understood. …”
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8609
Comparison of Adult Hippocampal Neurogenesis and Susceptibility to Treadmill Exercise in Nine Mouse Strains
Published 2017-01-01“…The genetic background of mice has various influences on the efficacy of physical exercise, as well as adult neurogenesis in the hippocampus. …”
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8610
Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review
Published 2024-05-01“…Distinguishing adult-onset BS from GS is challenging in clinical practice. However, genetic diagnosis can help solve this problem effectively, and genotypes play a guiding role in treatment planning.…”
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8611
Demographic Trends in Korean Native Cattle Explained Using Bovine SNP50 Beadchip
Published 2016-12-01“…Linkage disequilibrium (LD) is the non-random association between the loci and it could give us a preliminary insight into the genetic history of the population. In the present study LD patterns and effective population size (Ne) of three Korean cattle breeds along with Chinese, Japanese and Mongolian cattle were compared using the bovine Illumina SNP50 panel. …”
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8612
Vitiligo Review: etiopathogenesis, diagnosis and treatment
Published 2025-01-01“…Its exact cause remains unclear, but genetic and environmental factors, such as stress and skin trauma, are thought to contribute. …”
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8613
Beyond the Comfort Zone: Strenuous Sports as a Preventive Tactic Against Benign Prostatic Hyperplasia
Published 2025-02-01“…Strenuous sports are associated with an enlarged prostate. However, the genetic causality of this association remains unclear. …”
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8614
Genomic adaptation of Clostridium perfringens to human intestine
Published 2024-12-01“…Through this comprehensive genomic analysis, we provide novel insights into the fusion of pCW3‐like and pCP13‐like plasmids, the genetic location of cpe, the transmission dynamics of C. perfringens strains, and the relationship between toxin genes and host relevance. …”
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8615
Diversity of beetles (Arthropoda, Insecta, Coleoptera) associated with coniferous forests in Honduras
Published 2025-02-01“…Within I. apache, evidence of intraspecific genetic diversity was observed, although no population structure was detected. …”
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8616
Increased FOXM1 Expression was Associated with the Prognosis and the Recruitment of Neutrophils in Endometrial Cancer
Published 2023-01-01“…Bioinformatics analysis, including GEPIA, TIMER, cBioPortal, LinkedOmics, and STRING were used to analyze the FOXM1 gene expression, genetic alteration, and immune cell infiltration in EC. …”
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8617
Implementation of CT Image Segmentation Based on an Image Segmentation Algorithm
Published 2022-01-01“…Therefore, this study has proposed a combination of genetic algorithm (GA) and Great Law (OTSU) algorithm to form an image segmentation algorithm-immune genetic algorithm (IGA) algorithm. …”
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8618
Venetoclax and Azacitidine Combination is an Effective Salvage Regimen for Fit Patients with IDH-2-mutated Acute Myeloid Leukemia Refractory to Conventional Induction Chemotherapy
Published 2024-12-01“…Acute myeloid leukemia (AML) constitutes a heterogeneous group of clonal myeloid neoplasms that is associated with a large number of recurrent genetic abnormalities. Mutations in IDH2 gene can be found in nearly 10% of newly diagnosed AML patients. …”
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8619
Rare Suprasellar Chordoid Meningioma with INI1 Gene Mutation
Published 2017-09-01“…Background: Chordoid Meningioma is a rare brain tumour characterized genetically by loss of genetic material from chromosome 22q at cytogenetic level resulting in mutation of NF2 gene. …”
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8620
Impact of the −174 G > C IL-6 Polymorphism on Bioelectrical Parameters in Obese Subjects after Laparoscopic Adjustable Gastric Banding
Published 2012-01-01“…Twenty obese subjects were selected and studied at baseline and 3 months after LAGB. Genetic assessment of −174 G>C IL-6 polymorphism and anthropometric and bioelectrical impedance analysis were performed. …”
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