Pages that link to "Q51733753"
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The following pages link to Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. (Q51733753):
Displaying 50 items.
- Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma (Q24649847) (← links)
- Practical aspects of NGS-based pathways analysis for personalized cancer science and medicine (Q26748603) (← links)
- Unrevealed mosaicism in the next-generation sequencing era (Q26781758) (← links)
- Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation (Q28263098) (← links)
- Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data (Q30626337) (← links)
- Germline mosaicism in X-linked periventricular nodular heterotopia (Q33415773) (← links)
- MitoRS, a method for high throughput, sensitive, and accurate detection of mitochondrial DNA heteroplasmy. (Q33604636) (← links)
- Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex (Q33790242) (← links)
- High proportion of heteroresistance in gyrA and gyrB in fluoroquinolone-resistant Mycobacterium tuberculosis clinical isolates (Q33798166) (← links)
- Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing (Q33798236) (← links)
- Combined molecular genetic and cytogenetic analysis from single cells after isothermal whole-genome amplification (Q33894432) (← links)
- Somatic point mutations occurring early in development: a monozygotic twin study. (Q34377557) (← links)
- Are we Genomic Mosaics? Variations of the Genome of Somatic Cells can Contribute to Diversify our Phenotypes (Q34479587) (← links)
- Somatic mutations in cerebral cortical malformations (Q34763259) (← links)
- Low-level constitutional mosaicism of a de novoBRCA1 gene mutation (Q35098360) (← links)
- High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations. (Q35603304) (← links)
- Diagnostic Performance of the New Version (v2.0) of GenoType MTBDRsl Assay for Detection of Resistance to Fluoroquinolones and Second-Line Injectable Drugs: a Multicenter Study (Q35693044) (← links)
- Comparison of targeted next-generation sequencing and Sanger sequencing for the detection of PIK3CA mutations in breast cancer (Q35846874) (← links)
- Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing (Q35885444) (← links)
- Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies (Q36142388) (← links)
- Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism (Q36184594) (← links)
- Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis (Q36576392) (← links)
- A novel APC mosaicism in a patient with familial adenomatous polyposis (Q36671348) (← links)
- Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis (Q36928525) (← links)
- Application of Peptide Nucleic Acid-based Assays Toward Detection of Somatic Mosaicism (Q37238917) (← links)
- Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome (Q37279405) (← links)
- Selection and mutation in the "new" genetics: an emerging hypothesis. (Q37680742) (← links)
- Detecting somatic mosaicism: considerations and clinical implications. (Q38249605) (← links)
- Inherited predisposition to colorectal cancer: towards a more complete picture. (Q38571639) (← links)
- Special cases in Cornelia de Lange syndrome: The Spanish experience. (Q38831018) (← links)
- Exploiting the potential of next-generation sequencing in genomic medicine (Q38940833) (← links)
- Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion (Q39411661) (← links)
- Mutation and copy number detection in human cancers using a custom genotyping assay (Q39539054) (← links)
- Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases (Q40267479) (← links)
- Origin of mutation in sporadic cases of severe haemophilia A in Sweden (Q40337320) (← links)
- High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost-effective method for screening molecular defects: four novel mutations found in X-linked chronic granulomatous disease (Q43411970) (← links)
- Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing (Q44457947) (← links)
- Deep sequencing to reveal new variants in pooled DNA samples (Q44639856) (← links)
- Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders (Q46218071) (← links)
- Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome (Q47560000) (← links)
- Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma. (Q48326636) (← links)
- Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing (Q49061352) (← links)
- Detection of APC mosaicism by next-generation sequencing in an FAP patient. (Q51004462) (← links)
- IDH1/2 Mutations Predict Shorter Survival in Chondrosarcoma. (Q52629240) (← links)
- The p.R56* mutation in PTHLH causes variable brachydactyly type E. (Q55060018) (← links)
- Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation (Q56988349) (← links)
- ALS and CHARGE syndrome: a clinical and genetic study (Q57467839) (← links)
- Somatic mosaicism and neurodevelopmental disease (Q57804835) (← links)
- Diverse Effects of the NTCP p.Ser267Phe Variant on Disease Progression During Chronic HBV Infection and on HBV preS1 Variability (Q64076532) (← links)
- Molecular epidemiology of Marek's disease virus in central Pennsylvania, USA (Q64098774) (← links)