Found: 18
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Evaluation of an integrated clinical workflow for targeted next-generation sequencing of low-quality tumor DNA using a 51-gene enrichment panel
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- BMC Medical Genomics, 2014, v. 7, n. 1, p. 62, doi. 10.1186/s12920-014-0062-0
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- Article
A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT).
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1689, doi. 10.3390/ijms22041689
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- Article
The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective.
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- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00244
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- Article
Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.
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- BMC Pediatrics, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12887-015-0394-8
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- Article
A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings.
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- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0280-8
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- Article
A genetic enrichment strategy for delay of onset of Alzheimer's disease clinical trials: Biomarkers (non‐neuroimaging)/Use in clinical trial design and evaluation.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.044920
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- Article
MULTI-SITE EVALUATION OF THE AMPLIDEX® PCR/CE TOMM40 KIT FOR RAPID AND ACCURATE GENOTYPING OF POLY-T LENGTH POLYMORPHISMS AT RS10524523 OF THE TOMM40 GENE.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P959, doi. 10.1016/j.jalz.2017.06.1282
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- Article
A STREAMLINED PCR-BASED FRAGMENT ANALYSIS ASSAY THAT RESOLVES BOTH SINGLE NUCLEOTIDE AND POLY-T LENGTH POLYMORPHISMS AT APOE AND TOMM40 SUSCEPTIBILITY LOCI IN ALZHEIMER’S DISEASE.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P353, doi. 10.1016/j.jalz.2017.06.286
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- Article
Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study.
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- Reproductive Biology & Endocrinology, 2017, v. 15, p. 1, doi. 10.1186/s12958-017-0250-9
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- Article
In Reply.
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- Oncologist, 2015, v. 20, n. 5, p. e12, doi. 10.1634/theoncologist.2014-0357
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- Article
Profiling Cancer Gene Mutations in Clinical Formalin-Fixed, Paraffin-Embedded Colorectal Tumor Specimens Using Targeted Next-Generation Sequencing.
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- Oncologist, 2014, v. 19, n. 4, p. 336, doi. 10.1634/theoncologist.2013-0180
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- Article
A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 10, p. 694, doi. 10.3390/brainsci10100694
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- Article
Covering a broad range of ancestries with genetic testing.
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- Medical Laboratory Observer (MLO), 2021, v. 53, n. 9, p. 38
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- Article
MELT™ Total Nucleic Acid Isolation System: a new technology for hands-free tissue disruption, RNA preservation and total nucleic acid purification.
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- Nature Methods, 2005, v. 2, n. 9, p. i, doi. 10.1038/nmeth789
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- Article
A Novel FMR1 PCR Method for the Routine Detection of Low Abundance Expanded Alleles and Full Mutations in Fragile X Syndrome.
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- Clinical Chemistry, 2010, v. 56, n. 3, p. 399, doi. 10.1373/clinchem.2009.136101
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- Article
Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1148, doi. 10.1002/ajmg.a.61165
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- Article
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 771, doi. 10.1002/ajmg.a.35833
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- Article
Gene expression profile of mouse prostate tumors reveals dysregulations in major biological processes and identifies potential murine targets for preclinical development of human prostate cancer therapy.
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- Prostate, 2008, v. 68, n. 14, p. 1517, doi. 10.1002/pros.20803
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- Article