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Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.

Authors : Suwanlikit, Yossawat^1,2 (AUTHOR); Panthan, Bhakbhoom³ (AUTHOR); Chitayanan, Pawares⁴ (AUTHOR)

Source: BMC Medical Genomics. 1/24/2025, Vol. 18 Issue 1, p1-11. 11p.

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Academic Journal

Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus.

Authors : Strych, Lukáš¹ (AUTHOR) ; Černá, Monika¹ (AUTHOR); Hejnalová, Markéta¹ (AUTHOR)

Source: BMC Medical Genomics. 1/22/2024, Vol. 17 Issue 1, p1-7. 7p.

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Academic Journal

Transcriptomic analysis reveals key molecular signatures across recovery phases of hemorrhagic fever with renal syndrome.

Authors : Hu, Yuanyuan¹ (AUTHOR); Wu, Chao² (AUTHOR); Li, Tuohang³ (AUTHOR)

Source: BMC Medical Genomics. 9/11/2024, Vol. 17 Issue 1, p1-8. 8p.

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Academic Journal

Identification of miRNA expression profile in middle ear cholesteatoma using small RNA-sequencing.

Authors : Xie, Mengyao¹ (AUTHOR); Tang, Qi¹ (AUTHOR); Wang, Shu¹ (AUTHOR)

Source: BMC Medical Genomics. 6/18/2024, Vol. 17 Issue 1, p1-10. 10p.

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Academic Journal

The RNA sequencing results revealed the expression of different genes and signaling pathways during chemotherapy resistance in peripheral T-cell lymphoma.

Authors : Lan, Yunyi^1,2,3 (AUTHOR) ; Tao, Wei⁴ (AUTHOR); Ma, Luyao^1,2,3 (AUTHOR)

Source: BMC Medical Genomics. 3/11/2024, Vol. 17 Issue 1, p1-19. 19p.

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Academic Journal

Identifying potential pathogenesis and immune infiltration in diabetic foot ulcers using bioinformatics and in vitro analyses.

Authors : Xu, Yuanyuan^1,2 (AUTHOR); Xu, Jianchang³ (AUTHOR); Chen, Sirong^1,2 (AUTHOR)

Source: BMC Medical Genomics. 12/1/2023, Vol. 16 Issue 1, p1-14. 14p.

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Academic Journal

Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome.

Authors : Dong, Xing-sheng¹ (AUTHOR); Wen, Xiao-jun² (AUTHOR); Zhang, Sheng³ (AUTHOR)

Source: BMC Medical Genomics. 11/16/2023, Vol. 16 Issue 1, p1-7. 7p.

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Academic Journal

Machine learning algorithm predicts fibrosis-related blood diagnosis markers of intervertebral disc degeneration.

Authors : Zhao, Wei^1,2 (AUTHOR); Wei, Jinzheng² (AUTHOR); Ji, Xinghua³ (AUTHOR)

Source: BMC Medical Genomics. 11/1/2023, Vol. 16 Issue 1, p1-13. 13p.

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Academic Journal

Differential expression of pyroptosis-related genes in the hippocampus of patients with Alzheimer's disease.

Authors : Xia, Pengcheng¹ (AUTHOR); Ma, Huijun² (AUTHOR); Chen, Jing³ (AUTHOR)

Source: BMC Medical Genomics. 3/14/2023, Vol. 16 Issue 1, p1-13. 13p.

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Academic Journal

Identification of genes and key pathways underlying the pathophysiological association between nonalcoholic fatty liver disease and atrial fibrillation.

Authors : Chu, Yanan¹ (AUTHOR); Yu, Fangcong¹ (AUTHOR); Wu, Yakui¹ (AUTHOR)

Source: BMC Medical Genomics. 7/5/2022, Vol. 15 Issue 1, p1-14. 14p.

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Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.

Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus.

Transcriptomic analysis reveals key molecular signatures across recovery phases of hemorrhagic fever with renal syndrome.

Identification of miRNA expression profile in middle ear cholesteatoma using small RNA-sequencing.

The RNA sequencing results revealed the expression of different genes and signaling pathways during chemotherapy resistance in peripheral T-cell lymphoma.

Identifying potential pathogenesis and immune infiltration in diabetic foot ulcers using bioinformatics and in vitro analyses.

Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome.

Machine learning algorithm predicts fibrosis-related blood diagnosis markers of intervertebral disc degeneration.

Differential expression of pyroptosis-related genes in the hippocampus of patients with Alzheimer's disease.

Identification of genes and key pathways underlying the pathophysiological association between nonalcoholic fatty liver disease and atrial fibrillation.

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