Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome

Challenging Spontaneous Quantum Collapse with the XENONnT Dark Matter Detector.

Physical review letters·2026

WIMP Dark Matter Search Using a 3.1 Tonne-Year Exposure of the XENONnT Experiment.

Physical review letters·2025

The role of spatial distance in SARS-CoV-2 nosocomial transmission.

The Journal of hospital infection·2025

Consistent efficacy and safety of automated insulin delivery in children aged 2-6 years: results from the LENNY trial continuation phase.

Diabetes research and clinical practice·2025

Proportional representation and incidence rate of repeat visits in ethnic minorities compared to native Dutch people under the age of 25 years in the Netherlands.

Journal of migration and health·2025

Search for Light Dark Matter in Low-Energy Ionization Signals from XENONnT.

Physical review letters·2025

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

Human mutation·2026

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations.

Human mutation·2026

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Human mutation·2026

Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic Review.

Human mutation·2026

A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders.

Human mutation·2026

Novel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept.

Human mutation·2026

H+ exchange and pH profiling of select non-glycolytic cytosolic phosphate transfer and oxidation-reduction reactions.

Frontiers in molecular biosciences·2026

General View of Arachidonic Acid (AA) Metabolism.

Reviews of physiology, biochemistry and pharmacology·2026

Hydrophilic-hydrophobic imbalance is associated with alcohol-positive milk in Holstein cows: An untargeted metabolomics analysis.

Journal of dairy science·2026

Metabolic vulnerabilities in multiple myeloma: targeting iron and amino acid metabolism to induce ferroptosis.

Apoptosis : an international journal on programmed cell death·2026

INDIVIDUAL ARTICLE: Ammonium Lactate in Clinical Practice: Optimizing Treatment of Xerotic and Hyperkeratotic Skin Conditions.

Journal of drugs in dermatology : JDD·2026

Related Experiment Videos

Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy

Related Concept Videos

Challenging Spontaneous Quantum Collapse with the XENONnT Dark Matter Detector.

WIMP Dark Matter Search Using a 3.1 Tonne-Year Exposure of the XENONnT Experiment.

The role of spatial distance in SARS-CoV-2 nosocomial transmission.

Consistent efficacy and safety of automated insulin delivery in children aged 2-6 years: results from the LENNY trial continuation phase.

Proportional representation and incidence rate of repeat visits in ethnic minorities compared to native Dutch people under the age of 25 years in the Netherlands.

Search for Light Dark Matter in Low-Energy Ionization Signals from XENONnT.

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations.

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic Review.

A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders.

Novel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept.

H+ exchange and pH profiling of select non-glycolytic cytosolic phosphate transfer and oxidation-reduction reactions.

General View of Arachidonic Acid (AA) Metabolism.

Hydrophilic-hydrophobic imbalance is associated with alcohol-positive milk in Holstein cows: An untargeted metabolomics analysis.

Metabolic vulnerabilities in multiple myeloma: targeting iron and amino acid metabolism to induce ferroptosis.

INDIVIDUAL ARTICLE: Ammonium Lactate in Clinical Practice: Optimizing Treatment of Xerotic and Hyperkeratotic Skin Conditions.

Related Experiment Videos

Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy...

Related Concept Videos

Related Articles

Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy