Works matching DE "GENETIC mutation measurement"
Results: 18
bz-rates: A Web Tool to Estimate Mutation Rates from Fluctuation Analysis.
- Published in:
- 2015
- By:
- Publication type:
- Product Review
Comparison of Organoid Swelling and Biomarkers of CFTR Function to Determine Effects of Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for the F508del Mutation.
- Published in:
- 2020
- By:
- Publication type:
- research
Novel Documentation of Onset and Rapid Advancement of Pulmonary Arterial Hypertension without Symptoms in BMPR2 Mutation Carriers: Cautionary Tales?
- Published in:
- 2020
- By:
- Publication type:
- Case Study
PHorecasting Heritable Pulmonary Arterial Hypertension: Are We Nearly There Yet?
- Published in:
- 2020
- By:
- Publication type:
- Editorial
Small Interfering RNA (siRNA)-Mediated Knockdown of Myostatin Influences the Expression of Myogenic Regulatory Factors in Caprine Foetal Myoblasts.
- Published in:
- Applied Biochemistry & Biotechnology, 2014, v. 172, n. 3, p. 1714, doi. 10.1007/s12010-013-0582-7
- By:
- Publication type:
- Article
In silico identification of rescue sites by double force scanning.
- Published in:
- Bioinformatics, 2018, v. 34, n. 2, p. 207, doi. 10.1093/bioinformatics/btx515
- By:
- Publication type:
- Article
Determination of mutagenic potencies of aqueous extracts of Thermopsis turcica by Ames test.
- Published in:
- Turkish Journal of Biology, 2012, v. 36, n. 1, p. 85, doi. 10.3906/biy-1011-158
- By:
- Publication type:
- Article
Hermann Muller on Measuring Mutation Rates.
- Published in:
- Genetics, 2016, v. 202, n. 2, p. 369, doi. 10.1534/genetics.115.186171
- By:
- Publication type:
- Article
The study of homology between tumor progression genes and members of retroviridae as a tool to predict target-directed therapy failure.
- Published in:
- Frontiers in Pharmacology, 2015, p. 1, doi. 10.3389/fphar.2015.00092
- By:
- Publication type:
- Article
Clinicopathological features and clinical outcomes associated with TP53 and BRAF<sup>N</sup><sup>on-</sup><sup>V</sup><sup>600</sup> mutations in cutaneous melanoma patients.
- Published in:
- 2017
- By:
- Publication type:
- journal article
SUMOylation of Me CP2 is essential for transcriptional repression and hippocampal synapse development.
- Published in:
- Journal of Neurochemistry, 2014, v. 128, n. 6, p. 798, doi. 10.1111/jnc.12523
- By:
- Publication type:
- Article
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 11, p. 1, doi. 10.1371/journal.pgen.1007104
- By:
- Publication type:
- Article
A novel mutation of the hGR gene causing Chrousos syndrome.
- Published in:
- European Journal of Clinical Investigation, 2015, v. 45, n. 8, p. 782, doi. 10.1111/eci.12470
- By:
- Publication type:
- Article
Genome-wide patterns and properties of de novo mutations in humans.
- Published in:
- Nature Genetics, 2015, v. 47, n. 7, p. 822, doi. 10.1038/ng.3292
- By:
- Publication type:
- Article
Identification of a novel frameshift mutation in gene and the clinical management in an Asian Indian aniridia family.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Mutational pattern of a sample from a critical branching population.
- Published in:
- Journal of Mathematical Biology, 2016, v. 73, n. 3, p. 627, doi. 10.1007/s00285-015-0964-2
- By:
- Publication type:
- Article
Predictive Values for Molecular Diagnostics: Converting Unknown Unknowns to Known Unknowns.
- Published in:
- Molecular Diagnosis & Therapy, 2014, v. 18, n. 1, p. 1, doi. 10.1007/s40291-013-0076-x
- By:
- Publication type:
- Article
Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0274-6
- By:
- Publication type:
- Article