Showing 141 - 160 results of 278 for search '"genetic analysis"', query time: 0.10s Refine Results
  1. 141

    Identifying the Risky SNP of Osteoporosis with ID3-PEP Decision Tree Algorithm by Jincai Yang, Huichao Gu, Xingpeng Jiang, Qingyang Huang, Xiaohua Hu, Xianjun Shen

    Published 2017-01-01
    “…In the past 20 years, much progress has been made on the genetic analysis of osteoporosis. A number of genes and SNPs associated with osteoporosis have been found through GWAS method. …”
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  2. 142

    Integrated and streamlined microfluidic device for molecular diagnosis of pathogen through direct PCR amplification by Dohwan Lee, Tae Seok Seo

    Published 2025-01-01
    “…Results: In this study, we developed a microfluidic genetic analysis device that leverages direct PCR technology to simplify the entire PCR process, focusing on enhancing the usability and accessibility of the device for point-of-care diagnostics. …”
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  3. 143

    Microsatellite and Mitochondrial COI Provide Novel Insights Into the Population Genetic Structure of White Prunicola Scale (Pseudaulacaspis prunicola) in China by Minmin Niu, Dengen Fu, Haoyang Wang, Yun Liu, Xuanxing Du, Qing Zhao, Jiufeng Wei

    Published 2025-01-01
    “…In this study, a comprehensive population genetic analysis of P. prunicola in China was conducted, focusing on genetic diversity, genetic structure, relationships among geographical populations, and population dynamics. …”
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  4. 144

    Phylogenetic Analysis and Extracellular Enzyme Profiles of Yeast Strains Isolated from Raspberry Fruits by Melih Günay, Tulay Turgut Genc

    Published 2021-03-01
    “…Yeast strains were isolated and then identified by using the analysis of ITS1-5.8S-ITS2 rDNA gene sequences. The phylo-genetic analysis of all yeast strains was carried out by using the MEGA–X phylogenetic analysis tool. …”
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  5. 145

    LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient by Ivanka Dimova, Ivo Kremensky

    Published 2018-01-01
    “…The truncating nature of both nonsense mutations made the clinical presentation severe and the outcome fatal. Genetic analysis in such cases of muscle dystrophy is of utmost impact, because it makes the correct diagnosis with at least some specific options for treatment, makes the prognosis depending on the severity of mutation discovered, determines reproductive risk, and offers prophylaxis in the family by means of prenatal or preimplantation diagnostics.…”
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  6. 146

    Necroptotic Cell Death Signaling and Execution Pathway: Lessons from Knockout Mice by José Belizário, Luiz Vieira-Cordeiro, Sylvia Enns

    Published 2015-01-01
    “…Here we outline the recent discoveries into how the necrotic cell death execution pathway is engaged in many physiological and pathological outcome based on genetic analysis of knockout mice.…”
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  7. 147

    Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations by Mehmet Gunduz, Ozlem Unal

    Published 2016-01-01
    “…Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. …”
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  8. 148

    “Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case by Anne-Laure Bonnet, Kevin Sceosole, Arabelle Vanderzwalm, Caroline Silve, Anne-Margaux Collignon, Celine Gaucher

    Published 2020-01-01
    “…The proband and his mother were clinically diagnosed with AI, and genetic analysis revealed an already described variant in DLX3. …”
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  9. 149

    Analysis of Amelogenin and Sex-determining Region on Y Chromosome Genes Obtained from Pulpal Tissue for Sex Estimation by using Multiplex Polymerase Chain Reaction by Mohammed Taha Ahmed Baban, Dena Nadhim Mohammad, Natheer Al-Rawi

    Published 2023-12-01
    “…In this study, a total of 70 teeth, comprising 35 males and 35 females, were utilized, and all samples underwent genetic analysis to determine sex following exposure to different forensic scenarios. …”
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  10. 150

    Perinatal Management for a Pregnant Woman with an MYH9 Disorder by Yuka Yamashita, Rei Matsuura, Shinji Kunishima, Yoshie Oikawa, Hirotsugu Ariizumi, Shoko Hamada, Nahoko Shirato, Ryu Matsuoka, Kohichi Ogawa, Akihiko Sekizawa

    Published 2016-01-01
    “…We provided genetic counseling, as required, which included apprising the woman of the inheritance pattern, the importance of a genetic analysis, and the potential delivery risks for the patient and her offspring. …”
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  11. 151

    Diagnostic Pitfalls in Newborns and Babies with Blisters and Erosions by Elke Nischler, Alfred Klausegger, Clemens Hüttner, Gabriele Pohla-Gubo, Anja Diem, Johann W. Bauer, Helmut Hintner

    Published 2009-01-01
    “…In addition, we provide an overview of the rational use and the limitations of laboratory procedures such as microbial testing, routine light microscopy, immunofluorescence antigen mapping, transmission electron microscopy, and molecular genetic analysis.…”
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  12. 152

    The Relationship between Cadherin Polymorphisms and the Risk of Delayed Encephalopathy after Acute Carbon Monoxide Poisoning in the Chinese Han Population by Xuejiao Liu, Jiao Zeng, Xiaoli Zhang, Jiapeng Gu, Fan Zhang, Yongkai Han, Ping Zhang, Wenqiang Li, Renjun Gu

    Published 2022-01-01
    “…Using different genetic analysis models, we evaluated the relationship between the cadherin gene polymorphisms and risk of DEACMP. …”
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  13. 153

    Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome by Ibtissem Oueslati, Marwa Ben Jemaa, Meriem Yazidi, Fatma Chaker, Melika Chihaoui

    Published 2021-01-01
    “…Magnetic resonance imaging scan revealed a partially empty sella turcica. Genetic analysis showed no mutations and no copy number variants of the TBX19 and NFKB2 genes. …”
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  14. 154

    Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report by Jia Zhang, MengYue Guo, DongYang Yuan, JinYang Wei, Hongzhou Cui, Hongzhou Cui

    Published 2025-01-01
    “…Here we describe a classically OS case with definitive diagnosis of OS based on clinical features and a genetic assay. Genetic analysis revealed heterozygous variants in the TRPV3 gene using whole-exome sequencing of case-parents’ trios. …”
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  15. 155

    Study on genetics of yield component traits under salt stress in two rice crosses raised using honeycomb selection design by C. Yoglakshmi, Rajan Isha Pearl, V. Vengadessan, J. Karthick and S. Thirumeni*

    Published 2024-12-01
    “…For the agronomically important traits, precise phenotyping of crop plants is essential under stress where soil heterogeneity is aggravated for genetic analysis and developing improved crop varieties. …”
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  16. 156

    Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia by Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, Noraishah Ali, Huey Yin Leong, Lock Hock Ngu

    Published 2022-01-01
    “…To elaborate on the clinical findings, biochemical data, molecular genetic analysis, and short-term prognosis of 13 GSD1a patients in Malaysia. …”
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  17. 157

    Giant Prolactinoma of Young Onset: A Clue to Diagnosis of MEN-1 Syndrome by Chandrika Jayakanthi Subasinghe, Noel Somasundaram, Pathmanathan Sivatharshya, Lalana Devi Ranasinghe, Márta Korbonits

    Published 2018-01-01
    “…During follow-up, both developed pancreatic neuroendocrine tumours. Genetic analysis revealed that one was heterozygous for a nonsense mutation and other for missense mutation in MEN1 gene. …”
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  18. 158

    Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene by Jun Muratsu, Atsuyuki Morishima, Kazuhiro Mizoguchi, Keiji Ataka, Hiroshi Yamamoto, Xinping Fan, Toshiyuki Miyata, Katsuhiko Sakaguchi

    Published 2013-01-01
    “…We investigated the cause of thrombosis and found that the anticoagulant activity of protein C was decreased. Genetic analysis showed the presence of a c.125C>A (Arg42Ser) substitution in the protein C gene (PROC) of the proband, which generates an Arg42Ser mutation that replaces the scissile bond Arg42-Ala43 normally cleaved by a furin-like processing protease. …”
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  19. 159

    Aggressive Differentiated Thyroid Cancer due to EML4e13-ALKe20 Fusion: A Case Presentation and Review of the Literature by Rodhan Khthir, Zainab Shaheen, Prasanna Santhanam, Saroj Sigdel

    Published 2021-01-01
    “…The rapid progression of clinical signs and symptoms and the local extension beyond the thyroid and lymph nodes with the persistence of high-volume local disease after thyroidectomy highlight the aggressive nature of this mutation and the importance of performing genetic analysis to guide future treatments and determine prognosis. …”
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  20. 160

    Genotyping of hexaploid wheat varieties from different Russian regions by I. G. Adonina, I. N. Leonova, E. D. Badaeva, E. A. Salina

    Published 2016-03-01
    “…We used molecular-genetic and molecular-cytology approaches to characterize the genomes of 20 varieties of wheat created in different regions of Russia. A molecular-genetic analysis was performed using 29 SSR-markers covering the entire genome, and 41 ISBP-markers localized on chromosome 5B. …”
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