Showing 1 - 20 results of 128 for search '"BMC Medical Genomics"', query time: 0.06s Refine Results
  1. 1
    Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region

    Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region by Rukhsana Hassan, Gh Rasool Bhat, Feroze Ahmad Mir, Hilal Ahmad Ganie, Ifra Mushtaq, Mushtaq Ahmad Bhat, Ravouf Parvez Asimi, Dil Afroze

    Published 2024-11-01
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  2. 2
    Transcriptomics-based exploration of ubiquitination-related biomarkers and potential molecular mechanisms in laryngeal squamous cell carcinoma

    Transcriptomics-based exploration of ubiquitination-related biomarkers and potential molecular mechanisms in laryngeal squamous cell carcinoma by Qiu Chen, Zhimin Wu, Yifei Ma

    Published 2025-05-01
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  3. 3
    Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome

    Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome by Yessine Amri, Saoussen Chouchene, Hajer Foddha, Amani Abderahmene, Ikbel Kooli, Adnen Toumi, Kawthar Hadj Khalifa, Rihem Mezrigui, Taieb Messaoud, Mohsen Hassine, Rym Dabboubi

    Published 2025-05-01
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  4. 4
    Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia

    Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsi... by Zahra Nouri, Akram Sarmadi, Sina Narrei, Hamidreza Kianersi, Farzan Kianersi, Mohammad Amin Tabatabaiefar

    Published 2024-07-01
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  5. 5
    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
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  6. 6
    Unravelling the transcriptomic characteristics of bronchoalveolar lavage in post-covid pulmonary fibrosis

    Unravelling the transcriptomic characteristics of bronchoalveolar lavage in post-covid pulmonary fibrosis by Mohammad Shadab Ali, Vijay Hadda, Sonia Verma, Anita Chopra, Saurabh Mittal, Karan Madan, Pawan Tiwari, Tejas Menon Suri, Anant Mohan

    Published 2025-03-01
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  7. 7
    Inherited rare epidermal growth factor receptor mutation and somatic mutations in patients with non-small cell lung cancer: a case report

    Inherited rare epidermal growth factor receptor mutation and somatic mutations in patients with non-small cell lung cancer: a case report by Zacharenia Saridaki, Elena Fountzilas, Athanasios Alexopoulos, Niki Karachaliou

    Published 2025-03-01
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  8. 8
    Sex differences in MAGEL2 gene promoter methylation in high functioning autism - trends from a pilot study using nanopore Cas9 targeted long read sequencing

    Sex differences in MAGEL2 gene promoter methylation in high functioning autism - trends from a pilot study using nanopore Cas9 targeted long read sequencing by Jelte Wieting, Kirsten Jahn, Stefan Bleich, Maximilian Deest, Helge Frieling

    Published 2024-11-01
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  9. 9
    Private detection of relatives in forensic genomics using homomorphic encryption

    Private detection of relatives in forensic genomics using homomorphic encryption by Fillipe D. M. de Souza, Hubert de Lassus, Ro Cammarota

    Published 2024-11-01
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  10. 10
    Integrated analysis reveals key circRNA-mediated regulatory axes related to prognosis and immune infiltration in lung adenocarcinoma

    Integrated analysis reveals key circRNA-mediated regulatory axes related to prognosis and immune infiltration in lung adenocarcinoma by Yan Pei, Kang Lin

    Published 2025-07-01
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  11. 11
    First report of Leishmania RNA virus 2 and its high genetic diversity in cutaneous leishmaniasis cases from Ilam Province, Iran

    First report of Leishmania RNA virus 2 and its high genetic diversity in cutaneous leishmaniasis cases from Ilam Province, Iran by Reza Saberi, Amirmohammad Fallahi Lima, Homa Hajjaran, Mahdi Fakhar

    Published 2025-08-01
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  12. 12
    Association of Calpain-10 gene polymorphisms with Type 2 diabetes mellitus: a case-control study from a tertiary care hospital in Pakistan

    Association of Calpain-10 gene polymorphisms with Type 2 diabetes mellitus: a case-control study from a tertiary care hospital in Pakistan by Humaira Farooqi, Nakhshab Choudhry, Muhammad Nabeel Saddique, Samina Qamar, Rehma Dar, Salman Kazmi, Aamir Jamal Gondal, Nighat Yasmin, Hammad Javaid, Ursula Abu Nahla

    Published 2025-05-01
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  13. 13
    Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation

    Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation by Amirreza Sabahizadeh, Amir Askarinejad, Saranaz Seyed AliAkbar, Mahdieh Soveizi, Golnaz Houshmand, Hojjat Mortezaeian, Amin Elahifar, Majid Maleki, Samira Kalayinia

    Published 2025-03-01
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  14. 14
    Epidemiological factors associated with the prevalence of mobile genetic elements, and antimicrobial resistance patterns in Klebsiella pneumoniae of farm environments in Bangladesh

    Epidemiological factors associated with the prevalence of mobile genetic elements, and antimicrobial resistance patterns in Klebsiella pneumoniae of farm environments in Bangladesh by Md Hafizur Rahman, Sonia Akther, Shihab Ahmed, Md. Niamul Shahadat, Md Nuruzzaman Munsi, Abu Bakkar Siddique

    Published 2025-07-01
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  15. 15
    Genetic targets related to aging for the treatment of coronary artery disease

    Genetic targets related to aging for the treatment of coronary artery disease by Kai Huang, Zijun Chen, Ruting Wang, Hangfeng Ying, Jiahao Duan, Yi Zhang, Qianyuan Shi, Chun Yang, Ling Yang

    Published 2025-04-01
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  16. 16
    Chromosomal instability by low-coverage whole-genome sequencing assay predicts prognosis in bladder cancer patients underwent radical cystectomy

    Chromosomal instability by low-coverage whole-genome sequencing assay predicts prognosis in bladder cancer patients underwent radical cystectomy by Qi Ding, Hailiang Zhu, Bo Fan, Lisheng Wang, Xiaohua Jin, Cheng Cao, Ying Shi, Zhijiang Fan, Wenjian Tu, Feng Li

    Published 2025-06-01
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  17. 17
    CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family

    CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family by Haiting Liu, Xiaoyong Liu, Ximin Chen, Yangmei Pu, Wen Liu, Zemin Luo, Ai Chen, Hui Zhu, Fu Xiong, Lan Zeng, Jin Wang, Xiaocheng Nie, Shuyao Zhu

    Published 2025-08-01
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  18. 18
    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
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  19. 19
    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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  20. 20
    A comprehensive integration of data on the association of ITPKC polymorphisms with susceptibility to Kawasaki disease: a meta-analysis

    A comprehensive integration of data on the association of ITPKC polymorphisms with susceptibility to Kawasaki disease: a meta-analysis by Atefeh Habibi, Hanieh Talebi, Reza Bahrami, Mohammad Golshan-Tafti, Amirhossein Shahbazi, Seyed Alireza Dastgheib, Azadeh Tahooni, Maryam Vafapour, Heewa Rashnavadi, Melina Pourkazemi, Maryam Yeganegi, Elnaz Sheikhpour, Hossein Neamatzadeh

    Published 2025-03-01
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