A deletion polymorphism in intron 4 of the IDUA gene

Haze factor of silver nanowires in variable refractive index environment: experimental and simulation approaches.

Nanotechnology·2024

Giant temperature span in electrocaloric regenerator.

Science (New York, N.Y.)·2020

Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.

Clinical genetics·2018

[Contribution of genotyping in Fabry's disease].

La Revue de medecine interne·2011

[Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease].

La Revue de medecine interne·2011

Phenotypic spectrum of fucosidosis in Tunisia.

Journal of inherited metabolic disease·2008

Whole exome sequencing unveils novel pathogenic variants in an Iranian cohort with retinal dystrophies: Implications for genetic diagnosis and counseling.

Molecular and cellular probes·2026

Integration of PNA-mediated PCR and CRISPR/Cas13a for highly sensitive detection of EGFR T790M mutation in circulating tumor DNA.

Molecular and cellular probes·2026

Prednisone combined with dihydroartemisinin inhibits the excessive activation of skin keratinocytes in lupus erythematosus by targeting MAPK14.

Molecular and cellular probes·2026

Integrative multi-omics and experimental validation reveal the oncogenic role of DDX52 in liver hepatocellular carcinoma.

Molecular and cellular probes·2026

Inhibitory effects of hinokiflavone on human liver cytochrome P450 enzymes.

Molecular and cellular probes·2026

R-loops: Biological functions, regulatory mechanisms, and therapeutic implications in brain diseases-A review.

Molecular and cellular probes·2026

A Greedy Interpretable Geometric Constructive Method for Industrial Data Analysis.

IEEE transactions on neural networks and learning systems·2026

Evolution of cooperation on graphs with degree-dependent inertia.

Journal of mathematical biology·2026

When Deepfakes Meet Herd Immunity: Artificial Intelligence, Vaccine Avoidance, and the Next Infodemic Threat.

Journal of preventive medicine and public health = Yebang Uihakhoe chi·2026

Systematic evaluation of foundation models for organ-level classification on CT scans.

International journal of computer assisted radiology and surgery·2026

Agentic AI for trustworthy synthetic microbial genomics: a perspective on generation, validation, and governance.

Frontiers in bioinformatics·2026

Interpretable Small-Sample Deep Learning with Approximate Attribution Enhancement for Atomically Precise Gold Nanoclusters Synthesis.

Molecules (Basel, Switzerland)·2026

Related Experiment Videos

A deletion polymorphism in intron 4 of the IDUA gene

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Haze factor of silver nanowires in variable refractive index environment: experimental and simulation approaches.

Giant temperature span in electrocaloric regenerator.

Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.

[Contribution of genotyping in Fabry's disease].

[Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease].

Phenotypic spectrum of fucosidosis in Tunisia.

Whole exome sequencing unveils novel pathogenic variants in an Iranian cohort with retinal dystrophies: Implications for genetic diagnosis and counseling.

Integration of PNA-mediated PCR and CRISPR/Cas13a for highly sensitive detection of EGFR T790M mutation in circulating tumor DNA.

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A deletion polymorphism in intron 4 of the IDUA gene

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