Showing 1 - 20 results of 22 for search '"BMC Medical Genomics"', query time: 0.04s Refine Results
  1. 1
    Blood from septic patients with necrotising soft tissue infection treated with hyperbaric oxygen reveal different gene expression patterns compared to standard treatment

    Blood from septic patients with necrotising soft tissue infection treated with hyperbaric oxygen reveal different gene expression patterns compared to standard treatment by Julie Vinkel, Alfonso Buil, Ole Hyldegaard

    Published 2025-01-01
    “…BMC Medical Genomics…”
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  2. 2
    Genomic detection of Panton-Valentine Leucocidins encoding genes, virulence factors and distribution of antiseptic resistance determinants among Methicillin-resistant S. aureus isolates from patients attending regional referral hospitals in Tanzania

    Genomic detection of Panton-Valentine Leucocidins encoding genes, virulence factors and distribution of antiseptic resistance determinants among Methicillin-resistant S. aureus iso... by Masoud A. Juma, Tolbert Sonda, Boaz Wadugu, Davis Kuchaka, Mariana Shayo, Petro Paulo, Patrick Kimu, Livin E. Kanje, Melkiory Beti, Marco Van Zwetselaar, Blandina Mmbaga, Happiness Kumburu

    Published 2025-01-01
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  3. 3
    Causal relationship between educational attainment and the occurrence of venous thromboembolism

    Causal relationship between educational attainment and the occurrence of venous thromboembolism by Sitong Guo, Sitao Tan, Shiran Qin, Dandan Xu, Henghai Su, Xiaoyu Chen

    Published 2025-02-01
    “…BMC Medical Genomics…”
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  4. 4
    The role of candidate genetic polymorphisms in covid-19 susceptibility and outcomes

    The role of candidate genetic polymorphisms in covid-19 susceptibility and outcomes by Anthony Yazbeck, Reem Akika, Zainab Awada, Nathalie K. Zgheib

    Published 2025-02-01
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  5. 5
    Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis

    Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis by Yossawat Suwanlikit, Bhakbhoom Panthan, Pawares Chitayanan, Sommon Klumsathian, Angkana Charoenyingwattana, Wasun Chantratita, Objoon Trachoo

    Published 2025-01-01
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  6. 6
    Relationship between mucin gene polymorphisms and different types of gallbladder stones

    Relationship between mucin gene polymorphisms and different types of gallbladder stones by Gongqing Ren, Yongmao Fan, Ruizi Zhong, Gang Zou, Xiaojun Huang, Yue Zhang

    Published 2025-01-01
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  7. 7
    Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report

    Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report by Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila EL Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal

    Published 2025-01-01
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  8. 8
    Drug-target binding affinity prediction based on power graph and word2vec

    Drug-target binding affinity prediction based on power graph and word2vec by Jing Hu, Shuo Hu, Minghao Xia, Kangxing Zheng, Xiaolong Zhang

    Published 2025-01-01
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  9. 9
    A dedicated caller for DUX4 rearrangements from whole-genome sequencing data

    A dedicated caller for DUX4 rearrangements from whole-genome sequencing data by Pascal Grobecker, Stefano Berri, John F. Peden, Kai-Jie Chow, Claire Fielding, Ivana Armogida, Helen Northen, David J. McBride, Peter J. Campbell, Jennifer Becq, Sarra L. Ryan, David R. Bentley, Christine J. Harrison, Anthony V. Moorman, Mark T. Ross, Martina Mijuskovic

    Published 2025-01-01
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  10. 10
    Construction of a prognostic model for gastric cancer based on immune infiltration and microenvironment, and exploration of MEF2C gene function

    Construction of a prognostic model for gastric cancer based on immune infiltration and microenvironment, and exploration of MEF2C gene function by Si-yu Wang, Yu-xin Wang, Lu-shun Guan, Ao Shen, Run-jie Huang, Shu-qiang Yuan, Yu-long Xiao, Li-shuai Wang, Dan Lei, Yin Zhao, Chuan Lin, Chang-ping Wang, Zhi-ping Yuan

    Published 2025-01-01
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  11. 11
    Interaction of genetics risk score and fatty acids quality indices on healthy and unhealthy obesity phenotype

    Interaction of genetics risk score and fatty acids quality indices on healthy and unhealthy obesity phenotype by Niloufar Rasaei, Seyedeh Fatemeh Fatemi, Fatemeh Gholami, Mahsa Samadi, Mohammad Keshavarz Mohammadian, Elnaz Daneshzad, Khadijeh Mirzaei

    Published 2025-01-01
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  12. 12
    Identifying novel heterozygous PI4KA variants in fetal abnormalities

    Identifying novel heterozygous PI4KA variants in fetal abnormalities by Chen Cheng, Fan Yang, Xinlin Chen, Sheng Zhao

    Published 2025-01-01
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  13. 13
    Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis

    Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis by Kang Yi, Shao-E He, Tao Guo, Zi-Qiang Wang, Xin Zhang, Jian-Guo Xu, Hao-Yue Zhang, Wei-Guo Liu, Tao You

    Published 2025-01-01
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  14. 14
    Transcriptome sequencing reveals regulatory genes associated with neurogenic hearing loss

    Transcriptome sequencing reveals regulatory genes associated with neurogenic hearing loss by Fengfeng Jia, Fang Wang, Song Li, Yunhua Cui, Yongmei Yu

    Published 2025-01-01
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  15. 15
    Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking

    Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking by Xiao-Yao Li, Bei-Yuan Zhang, Xin-Ran Liang, Yan-Yu Han, Min-Hua Cheng, Mei Wei, Ke Cao, Xian-Cheng Chen, Ming Chen, Jian-Feng Duan, Wen-Kui Yu

    Published 2025-01-01
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  16. 16
    Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases

    Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases by Xu Yan, Kai Ding, Xin Zhang, Shuai Zhang, Haiying Peng, Ying Zhang

    Published 2025-02-01
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  17. 17
    A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa

    A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa by Saira Sattar, Thashi Bharadwaj, Umm-e- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M. Leal, Isabelle Schrauwen

    Published 2025-02-01
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  18. 18
    Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening

    Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening by Georgina L Hollitt, Mark M Hassall, Owen M Siggs, Jamie E Craig, Emmanuelle Souzeau

    Published 2025-01-01
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  19. 19
    Identification of novel cytoskeleton protein involved in spermatogenic cells and sertoli cells of non-obstructive azoospermia based on microarray and bioinformatics analysis

    Identification of novel cytoskeleton protein involved in spermatogenic cells and sertoli cells of non-obstructive azoospermia based on microarray and bioinformatics analysis by Danial Hashemi Karoii, Hossein Azizi, Maryam Darvari, Ali Qorbanee, Dawan Jamal Hawezy

    Published 2025-01-01
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  20. 20
    Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report

    Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report by Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila EL Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal

    Published 2025-02-01
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