Expressed sequence tag database screening for identification of human genes

Functional characterization of a biallelic MIPEP variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotonia.

Molecular genetics and metabolism reports·2026

Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease.

HGG advances·2026

Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

Brain communications·2026

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases.

European journal of immunology·2026

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Neurology·2026

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

Journal of inherited metabolic disease·2026

Clinical Europium fluorescent based lectin assays for mucin O-glycomics.

Methods in enzymology·2026

A dual-color FRET assay for detection and quantitative analysis of O-glycopeptidases.

Methods in enzymology·2026

Evolutionary genetic approaches to analyze mucins.

Methods in enzymology·2026

Ex vivo imaging and enzymatic analysis of intestinal mucus.

Methods in enzymology·2026

Glyco-TRAPP: A real-time glycocalyx permeability assay for assessing transmembrane mucin barrier function in live and fixed tissues.

Methods in enzymology·2026

Quantitative imaging approaches to capture structural and functional dynamics of colonic mucus in health and disease in situ.

Methods in enzymology·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

Expressed sequence tag database screening for identification of human genes

Related Concept Videos

Functional characterization of a biallelic <i>MIPEP</i> variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotonia.

Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease.

Neurological manifestations and genotype-phenotype correlations in <i>NDUFAF6</i>-associated mitochondrial disease.

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases.

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

Clinical Europium fluorescent based lectin assays for mucin O-glycomics.

A dual-color FRET assay for detection and quantitative analysis of O-glycopeptidases.

Evolutionary genetic approaches to analyze mucins.

Ex vivo imaging and enzymatic analysis of intestinal mucus.

Glyco-TRAPP: A real-time glycocalyx permeability assay for assessing transmembrane mucin barrier function in live and fixed tissues.

Quantitative imaging approaches to capture structural and functional dynamics of colonic mucus in health and disease in situ.

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

Expressed sequence tag database screening for identification of human genes

Related Concept Videos

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