نتائج البحث

Organellar genome dynamics of exogenous stages of Eimeria tenella.

• Authors : Kruth, Perryn S.¹ (AUTHOR); Lane, Taylor¹ (AUTHOR); Barta, John R.¹ (AUTHOR)

• Source: Parasites & Vectors. 10/13/2024, Vol. 17 Issue 1, p1-14. 14p.

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Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.

• Authors : Kalef-Ezra, Ester^1,2 (AUTHOR); Turan, Zeliha Gozde^1,2 (AUTHOR); Perez-Rodriguez, Diego¹ (AUTHOR)

• Source: Communications Biology. 10/9/2024, Vol. 7 Issue 1, p1-10. 10p.

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Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR.

• Authors : Amstler, Stephan¹ (AUTHOR); Streiter, Gertraud¹ (AUTHOR); Pfurtscheller, Cathrin¹ (AUTHOR)

• Source: Genome Medicine. 10/8/2024, Vol. 16 Issue 1, p1-20. 20p.

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Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.

• Authors : Villacis, Rolando André Rios^1,2 (AUTHOR) ; Côrtes, Luiza^1,3 (AUTHOR) ; Basso, Tatiane Ramos¹ (AUTHOR)

• Source: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10275. 15p.

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Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.

• Authors : Yin, Rui^1,2 (AUTHOR); Wack, Maxime¹ (AUTHOR); Hassen-Khodja, Claire¹ (AUTHOR)

• Source: Molecular Autism. 9/30/2024, Vol. 15 Issue 1, p1-18. 18p.

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CNVoyant a machine learning framework for accurate and explainable copy number variant classification.

• Authors : Schuetz, Robert J.¹ (AUTHOR); Ceyhan, Defne¹ (AUTHOR); Antoniou, Austin A.² (AUTHOR)

• Source: Scientific Reports. 9/28/2024, Vol. 14 Issue 1, p1-15. 15p.

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Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study.

• Authors : Zhuang, Jianlong¹ (AUTHOR) ; Wei, Qiulan² (AUTHOR); Jiang, Yuying¹ (AUTHOR)

• Source: BMC Pregnancy & Childbirth. 9/18/2024, Vol. 24 Issue 1, p1-8. 8p.

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Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.

• Authors : Daly, Adrian F.¹ (AUTHOR); Dunnington, Leslie A.^2,3 (AUTHOR); Rodriguez-Buritica, David F.^2,3 (AUTHOR)

• Source: Genome Medicine. 9/13/2024, Vol. 16 Issue 1, p1-11. 11p.

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Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.

• Authors : Carlisle, Steven G.¹ (AUTHOR); Albasha, Hasan² (AUTHOR); Michelena, Hector I.³ (AUTHOR)

Subjects: *THORACIC aneurysms; *DNA copy number variations; *AORTIC valve

• Source: PLoS ONE. 9/6/2024, Vol. 19 Issue 9, p1-16. 16p.

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Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.

• Authors : Zhuang, Jianlong¹ (AUTHOR) ; Zhang, Na¹ (AUTHOR); Fu, Wanyu¹ (AUTHOR)

• Source: Molecular Cytogenetics (17558166). 9/2/2024, Vol. 17 Issue 1, p1-8. 8p.

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