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Mutation Rate Heterogeneity Increases Odds of Survival in Unpredictable Environments

Subjects: Mutation rate; Environmental change; DNA Repair

  • Source: Molecular CellMolecular Cell, Elsevier, 2019, 75 (3), pp.421-425. ⟨10.1016/j.molcel.2019.06.029⟩Molecular Cell, 2019, 75 (3), pp.421-425. ⟨10.1016/j.molcel.2019.06.029⟩

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New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden

Subjects: Adult; Male; Mutation rate

  • Source: Amyloid: The Journal of Protein Folding DisordersAmyloid: The Journal of Protein Folding Disorders, Taylor & Francis, 2021, 28 (2), pp.84-90. ⟨10.1080/13506129.2020.1841623⟩

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Droplet digital PCR detects high rate of TP53 R249S mutants in cell-free DNA of middle African patients with hepatocellular carcinoma

Subjects: 0301 basic medicine; Male; Aflatoxin B1

  • Source: Clinical and Experimental MedicineClinical and Experimental Medicine, Springer Verlag, 2018, 18 (3), pp.421-431. ⟨10.1007/s10238-018-0502-9⟩Clinical and Experimental Medicine, 2018, 18

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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Subjects: Male; 0301 basic medicine; Somatic cell

  • Source: Genetics in MedicineGenetics in Medicine, Nature Publishing Group, 2020, 22 (1), pp.150-159. ⟨10.1038/s41436-019-0606-y⟩Genetics in Medicine, Nature Publishing Group, In press,

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Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma

Subjects: 0301 basic medicine; Oncology; medicine.medical_specialty

  • Source: Journal of Medical GeneticsJournal of Medical Genetics, BMJ Publishing Group, 2019, 56, pp.513-520. ⟨10.1136/jmedgenet-2018-105714⟩Journal of Medical Genetics, 2019, 56, pp.513-520.

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Mosaicism and prenatal diagnosis options: insights from retinoblastoma

Subjects: Parents; 0301 basic medicine; Proband

  • Source: European Journal of Human GeneticsEuropean Journal of Human Genetics, Nature Publishing Group, 2017, 25 (3), pp.381-383. ⟨10.1038/ejhg.2016.174⟩European Journal of Human Genetics,

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Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome

Subjects: 0301 basic medicine; Proband; Male

  • Source: Clinical Journal of the American Society of NephrologyClinical Journal of the American Society of Nephrology, American Society of Nephrology, 2018, 13 (2), pp.242--250.

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NetNorM: capturing cancer-relevant information in somatic exome mutation data with gene networks for cancer stratification and prognosis

Subjects: 0301 basic medicine; Mutation rate; Carcinogenesis

  • Source: PLoS Computational BiologyPLoS Computational Biology, Public Library of Science, 2017, 13 (6), ⟨10.1371/journal.pcbi.1005573⟩PLoS Computational Biology, Vol 13, Iss 6, p e1005573

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