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Systematic isolation and characterization of cDNAs encoding AAA proteins from human brain.

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The Halloween genes code for cytochrome P450 enzymes mediating synthesis of the insect moulting hormone.

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Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia.

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A role for betaFTZ-F1 in regulating ecdysteroid titers during post-embryonic development in Drosophila melanogaster.

Developmental biology·2005

Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation.

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Diagnosis and treatment of Wilson's disease.

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Tissue-specific models of spinal muscular atrophy identify muscle functions required for Drosophila neuromuscular junction architecture.

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Deep phenotyping of EHMT1 ankyrin repeat domain missense variants in Kleefstra syndrome by multi-tiered structural genomics analyses at atomic resolution.

Human molecular genetics·2026

MEF2C promoter variants in patent ductus arteriosus: a genetic and functional study.

Human molecular genetics·2026

Explaining the unexplained admixture mapping signals via rare variants: the HCHS/SOL.

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Optical genome mapping identifies cryptic balanced chromosomal rearrangements in karyotypically normal couples with recurrent pregnancy loss or adverse pregnancy history.

Human molecular genetics·2026

Cell-type-specific dysregulated gene expression in the frontal cortex of an Angelman syndrome pig model.

Human molecular genetics·2026

HELQ & Hel308: ancient enzymes of DNA repair and recombination.

Biochemical Society transactions·2026

Reverse pedicle subtraction osteotomy for iatrogenic hyperlordosis in a scoliosis patient: illustrative case.

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Journal of endovascular therapy : an official journal of the International Society of Endovascular Specialists·2026

Targeting RUNX3 alleviates abdominal aortic aneurysm by ameliorating oxidative stress via mitophagy.

Journal of thrombosis and thrombolysis·2026

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An RsaI polymorphism in the human serotonin receptor gene (HTR1A): detection by DGGE and RFLP analysis

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Systematic isolation and characterization of cDNAs encoding AAA proteins from human brain.

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