Alternative approaches to proficiency testing in molecular genetics

Novel Missense Variants in TRIM37 Associated with Mulibrey Nanism and Complex Congenital Heart Disease.

Cardiology and cardiovascular medicine·2026

Clinical Presentation of a Child With a Novel ALMS1 Variant Associated With Alström Syndrome and Favorable Response to GLP-1 Receptor Agonist Therapy.

American journal of medical genetics. Part A·2026

The GigaAssay: A combined high throughput and highly accurate platform for variant classification.

New biotechnology·2025

A Primer on Gene Editing: What Does It Mean for Pathologists?

Archives of pathology & laboratory medicine·2025

High-throughput characterization of 5886 HER2 variants identifies 112 new in cellulo gain-of-function mutations.

Genomics·2025

New Gain-of-Function Mutations Prioritize Mechanisms of HER2 Activation.

medRxiv : the preprint server for health sciences·2025

Characterization of the Migration Profile of 36 Therapeutic Monoclonal Antibodies in Serum Protein Electrophoresis and Immunofixation.

Clinical chemistry·2026

Serum Biomarkers for the Non-Invasive Assessment of Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD): An Update.

Clinical chemistry·2026

Interlaboratory Comparison of a Glucagon and Oxyntomodulin Immuno-LC-MS/MS Assay: Implications for Diabetes Research.

Clinical chemistry·2026

Comparison of Information-Dependent Acquisition and Sequential Window Acquisition of All Theoretical Mass Spectra for Untargeted Drug Testing on a Linear Ion Trap-Pulsing Quadrupole-Time of Flight Mass Spectrometer.

Clinical chemistry·2026

Patterns of One-Year Change in HbA1c and Continuous Glucose Monitoring (CGM) Metrics in Older Adults with Type 2 Diabetes.

Clinical chemistry·2026

Rapid Detection of Hemoglobinopathy Variants Using One-Step Library Preparation and Nanopore Sequencing.

Clinical chemistry·2026

The Genetics of Coronary Artery Disease: Insights from Genome-wide Association Studies.

Current cardiology reviews·2026

Establishment of the endocrine variant extractor and its clinical application in identifying a novel GATA3 mutation in HDR syndrome.

Frontiers in endocrinology·2026

Sex- and Population-Specific Formulas for Glenoid Height-Based Assessment of Glenoid Bone Loss: A Systematic Review and Meta-analysis.

Orthopaedic journal of sports medicine·2026

Root cause discovery via permutations and Cholesky decomposition.

Journal of the Royal Statistical Society. Series B, Statistical methodology·2026

In-silico analysis of Bifidobacterium bifidum strain 900791 genome in the context of the B. bifidum pangenome.

Frontiers in cellular and infection microbiology·2026

Sex Differences in Behavioral Responses to Chronic Unpredictable Mild Stress in Swiss Mice.

The European journal of neuroscience·2026

Related Experiment Videos

Alternative approaches to proficiency testing in molecular genetics

Related Concept Videos

Novel Missense Variants in <i>TRIM37</i> Associated with Mulibrey Nanism and Complex Congenital Heart Disease.

Clinical Presentation of a Child With a Novel ALMS1 Variant Associated With Alström Syndrome and Favorable Response to GLP-1 Receptor Agonist Therapy.

The GigaAssay: A combined high throughput and highly accurate platform for variant classification.

A Primer on Gene Editing: What Does It Mean for Pathologists?

High-throughput characterization of 5886 HER2 variants identifies 112 new in cellulo gain-of-function mutations.

New Gain-of-Function Mutations Prioritize Mechanisms of HER2 Activation.

Characterization of the Migration Profile of 36 Therapeutic Monoclonal Antibodies in Serum Protein Electrophoresis and Immunofixation.

Serum Biomarkers for the Non-Invasive Assessment of Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD): An Update.

Interlaboratory Comparison of a Glucagon and Oxyntomodulin Immuno-LC-MS/MS Assay: Implications for Diabetes Research.

Comparison of Information-Dependent Acquisition and Sequential Window Acquisition of All Theoretical Mass Spectra for Untargeted Drug Testing on a Linear Ion Trap-Pulsing Quadrupole-Time of Flight Mass Spectrometer.

Patterns of One-Year Change in HbA1c and Continuous Glucose Monitoring (CGM) Metrics in Older Adults with Type 2 Diabetes.

Rapid Detection of Hemoglobinopathy Variants Using One-Step Library Preparation and Nanopore Sequencing.

The Genetics of Coronary Artery Disease: Insights from Genome-wide Association Studies.

Establishment of the endocrine variant extractor and its clinical application in identifying a novel <i>GATA3</i> mutation in HDR syndrome.

Sex- and Population-Specific Formulas for Glenoid Height-Based Assessment of Glenoid Bone Loss: A Systematic Review and Meta-analysis.

Root cause discovery via permutations and Cholesky decomposition.

<i>In-silico</i> analysis of <i>Bifidobacterium bifidum</i> strain 900791 genome in the context of the <i>B. bifidum</i> pangenome.

Sex Differences in Behavioral Responses to Chronic Unpredictable Mild Stress in Swiss Mice.

Related Experiment Videos

Alternative approaches to proficiency testing in molecular genetics

Related Concept Videos

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