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PMC Full-Text Search Results

Items: 1 to 20 of 2601

1.
Genomic characteristics and prognostic correlations in Chinese multiple myeloma patients
Xi Chen, Tianchen Luo, Wenhui Zhang, Sheng Wang, Mengxuan Zhu, Haiyan He, Jin Liu, Jing Lu, Wanting Qiang, Yanchun Jia, Nan Hou, Xuenan Zhao, Shan Zhang, Jing Li, Juan Du
BMC Med Genomics. 2025; 18: 50. Published online 2025 Mar 14. doi: 10.1186/s12920-025-02116-5
PMCID:
PMC11907858
ArticlePDF–2.8M
2.
Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation
Amirreza Sabahizadeh, Amir Askarinejad, Saranaz Seyed AliAkbar, Mahdieh Soveizi, Golnaz Houshmand, Hojjat Mortezaeian, Amin Elahifar, Majid Maleki, Samira Kalayinia
BMC Med Genomics. 2025; 18: 42. Published online 2025 Mar 7. doi: 10.1186/s12920-025-02111-w
PMCID:
PMC11889773
ArticlePDF–1.2M
3.
Correction: whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature
Atefeh Mir, Yongjun Song, Hane Lee, Hossein Khanahmad, Erfan Khorram, Jafar Nasiri, Mohammad Amin Tabatabaiefar
BMC Med Genomics. 2025; 18: 40. Published online 2025 Feb 27. doi: 10.1186/s12920-025-02100-z
Corrects:
BMC Med Genomics. 2023; 16: 239.
PMCID:
PMC11866631
CorrectionPDF–927K
4.
A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family
Mengxiao Liu, Hao Zheng, Zhixiang Li, Runfei Pang, Yang Niu, Lei Yang, Zhenxiang Zhang, Jianguo Xia, Xiuhong Pang
BMC Med Genomics. 2025; 18: 36. Published online 2025 Feb 24. doi: 10.1186/s12920-025-02101-y
PMCID:
PMC11853305
ArticlePDF–6.7M
5.
Noninvasive preimplantation genetic testing for aneuploidy using blastocyst spent culture medium may serve as a backup of trophectoderm biopsy in conventional preimplantation genetic testing
Songchang Chen, Li Wang, Yuting Hu, Yaxin Yao, Fangfang Gao, Chunxin Chang, Lanlan Zhang, Hefeng Huang, Daru Lu, Chenming Xu
BMC Med Genomics. 2025; 18: 34. Published online 2025 Feb 21. doi: 10.1186/s12920-025-02106-7
PMCID:
PMC11846158
ArticlePDF–974K
6.
The role of candidate genetic polymorphisms in covid-19 susceptibility and outcomes
Anthony Yazbeck, Reem Akika, Zainab Awada, Nathalie K. Zgheib
BMC Med Genomics. 2025; 18: 30. Published online 2025 Feb 7. doi: 10.1186/s12920-025-02094-8
PMCID:
PMC11806658
ArticlePDF–1.0M
7.
Circulating microRNA panels for multi-cancer detection and gastric cancer screening: leveraging a network biology approach
Leila Kamkar, Samaneh Saberi, Mehdi Totonchi, Kaveh Kavousi
BMC Med Genomics. 2025; 18: 27. Published online 2025 Feb 6. doi: 10.1186/s12920-025-02091-x
PMCID:
PMC11804061
ArticlePDF–4.0M
8.
Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report
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
BMC Med Genomics. 2025; 18: 25. Published online 2025 Feb 3. doi: 10.1186/s12920-025-02095-7
Corrects:
BMC Med Genomics. 2025; 18: 5.
PMCID:
PMC11792362
CorrectionPDF–715K
9.
Relationship between mucin gene polymorphisms and different types of gallbladder stones
Gongqing Ren, Yongmao Fan, Ruizi Zhong, Gang Zou, Xiaojun Huang, Yue Zhang
BMC Med Genomics. 2025; 18: 22. Published online 2025 Jan 30. doi: 10.1186/s12920-025-02090-y
PMCID:
PMC11783967
ArticlePDF–1.1M
10.
A dedicated caller for DUX4 rearrangements from whole-genome sequencing data
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
BMC Med Genomics. 2025; 18: 24. Published online 2025 Jan 30. doi: 10.1186/s12920-024-02069-1
PMCID:
PMC11783778
ArticlePDF–2.6M
11.
Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis
Kang Yi, Shao-E He, Tao Guo, Zi-Qiang Wang, Xin Zhang, Jian-Guo Xu, Hao-Yue Zhang, Wei-Guo Liu, Tao You
BMC Med Genomics. 2025; 18: 20. Published online 2025 Jan 27. doi: 10.1186/s12920-024-02052-w
PMCID:
PMC11771109
ArticlePDF–16M
12.
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
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
BMC Med Genomics. 2025; 18: 17. Published online 2025 Jan 23. doi: 10.1186/s12920-025-02088-6
PMCID:
PMC11756149
ArticlePDF–1.7M
13.
Interaction of genetics risk score and fatty acids quality indices on healthy and unhealthy obesity phenotype
Niloufar Rasaei, Seyedeh Fatemeh Fatemi, Fatemeh Gholami, Mahsa Samadi, Mohammad Keshavarz Mohammadian, Elnaz Daneshzad, Khadijeh Mirzaei
BMC Med Genomics. 2025; 18: 16. Published online 2025 Jan 21. doi: 10.1186/s12920-024-02066-4
PMCID:
PMC11753101
ArticlePDF–1.2M
14.
Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results
Patrik Smeds, Izabella Baranowska Körberg, Malin Melin, Claes Ladenvall
BMC Med Genomics. 2025; 18: 15. Published online 2025 Jan 20. doi: 10.1186/s12920-025-02086-8
PMCID:
PMC11748546
ArticlePDF–1.0M
15.
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
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
BMC Med Genomics. 2025; 18: 14. Published online 2025 Jan 20. doi: 10.1186/s12920-025-02085-9
PMCID:
PMC11748250
ArticlePDF–1.1M
16.
Blood from septic patients with necrotising soft tissue infection treated with hyperbaric oxygen reveal different gene expression patterns compared to standard treatment
Julie Vinkel, Alfonso Buil, Ole Hyldegaard
BMC Med Genomics. 2025; 18: 12. Published online 2025 Jan 14. doi: 10.1186/s12920-024-02075-3
PMCID:
PMC11734498
ArticlePDF–2.6M
17.
Construction of a prognostic model for gastric cancer based on immune infiltration and microenvironment, and exploration of MEF2C gene function
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
BMC Med Genomics. 2025; 18: 13. Published online 2025 Jan 14. doi: 10.1186/s12920-024-02082-4
PMCID:
PMC11734330
ArticlePDF–4.3M
18.
Challenges of reproducible AI in biomedical data science
Henry Han
BMC Med Genomics. 2025; 18(Suppl 1): 8. Published online 2025 Jan 10. doi: 10.1186/s12920-024-02072-6
PMCID:
PMC11724458
ArticlePDF–799K
19.
Detection and identification of Naegleria species along with Naegleria fowleri in the tap water samples
Muhammad Aurongzeb, Syeda Zehratul Fatima, Syed Ikhlaq Hussain, Yasmeen Rashid, Tariq Aziz, Majid Alhomrani, Walaa F. Alsanie, Abdulhakeem S. Alamri
BMC Med Genomics. 2025; 18: 6. Published online 2025 Jan 8. doi: 10.1186/s12920-024-02068-2
PMCID:
PMC11716488
ArticlePDF–2.6M
20.
Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report
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
BMC Med Genomics. 2025; 18: 5. Published online 2025 Jan 7. doi: 10.1186/s12920-024-02057-5
Correction in:
BMC Med Genomics. 2025; 18: 25.
PMCID:
PMC11708236
ArticlePDF–1.0M

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