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Poster Icon   Scientific Poster
Unveiling Noncoding DMD Variants: Synergizing RNA Sequencing and DNA Sequencing for Enhanced Molecular Diagnosis
This poster demonstrate RNA sequencing as a powerful tool, especially when integrating with DNA sequencing, for elucidating the pathogenicity of DMD variants, achieving a precise genetic diagnosis, and guiding the potential treatments in patients with clinical and pathological suspicions of DMD/BMD without definitive diagnoses after routine genetic testing.
Poster Icon   Scientific Poster
Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene: Implications for prenatal testing and new therapeutics.
This poster highlights results emphasize the importance of utilizing breakpoint analysis of NGS data or long-read sequencing to assess the pathogenicity of CNVs detected in the DMD gene, particularly in duplications identified by carrier screening or prenatal diagnosis when there is no family history of dystrophinopathy. The precise molecular diagnosis of DMD is essential in clinical evaluation, variant classification, and therapeutics.
Poster Icon   Scientific Poster
Identification of Multiple Diagnoses in Pediatric Patients through Genome Sequencing
This study solely utilizes genome sequencing to assess the prevalence of MGD. Findings highlight the complexity of rare diseases and underscore the critical role of a comprehensive, genome-level diagnostic approach. Even with an initial diagnosis, clinicians should ensure it fully explains the observed phenotype to guide optimal therapeutic strategies and management.
Poster Icon   Scientific Poster
Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease
Comparison of the GLA variant profiles between the NBS cohort and the diagnostic cohort for Fabry Disease were identified
Poster Icon   Scientific Poster
Recognizing the Promise and Potential Pitfalls of Genomic Medicine Through Routine Rapid Whole Genome Sequencing
This poster explains WGS from DBS reduces the challenges associated with sample collection from an ill newborn; Minimal processing steps result in rapid turn around time; results in deep coverage of mtDNA sequence; Increased diagnostic yield due to detection of deep intronic and cytogenomic variants; Use of DBS also allows for comprehensive biochemical testing (70+ disorders) by the same methods used for newborn screening.
Infographic Icon   Infographic
GPCRs and their prevalence in drug therapies
Discover a detailed GPCR infographic with biology background and approved drug therapies.
Form Icon   Form
Ultragenyx Pharmaceutical Requisition Form Sponsored MPS Testing
This is a form for Ultragenyx pharmaceutical - Sponsored MPS Testing
Guide Icon   Guide
Download your guide on pharmacological ligand classes
A comprehensive overview of pharmacology's main ligands
Publication Icon   Literature - Publication Review
Expand your horizons with this literature review of multiple sclerosis research studies
Discover this literature review showing how scientists leverage immunoassays to move their research forward. Expand your horizons with experiments and data from published studies that investigate new leads for multiple sclerosis (MS) drug discovery.
Application Note Icon   Application Note
Download your protocol on CD4 T cells differentiation into Th17 cells
In this application note is reported a protocol for the isolation of mouse naïve CD4+ T-cells and their differentiation into T-Reg and Th-17 cells.
Whitepaper Icon   Whitepaper
Get our White Paper about autoimmunity
A complete review on current and emerging therapeutic approaches for autoimmune diseases
Infographic Icon   Infographic
Cell cycle infographic
Targeting various steps of the cell cycle is a promising strategy for cancer therapeutics. Learn more from our infographic.
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