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A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.

Annals of human genetics·2001

Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

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Applied and environmental microbiology·2000

Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.

Brain : a journal of neurology·1999

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.

American journal of human genetics·1998

Rapid synthesis of isoprenoid diphosphates and their isolation in one step using either thin layer or flash chromatography.

Journal of chromatography·2013

[Electrophoresis of radionuclides on cellogel].

Journal of chromatography·2012

Frontal affinity chromatography: theory for its application to studies on specific interactions of biomolecules.

Journal of chromatography·2010

Determination of the calcium antagonist SIM6080 in plasma by high-resolution gas chromatography.

Journal of chromatography·1994

Processing of envelope polypeptides of herpes simplex virus type 1. Demonstration of variation in different cell lines by high-performance liquid chromatography and radioimmunoprecipitation.

Journal of chromatography·1994

Measurement of GABA in rat brain microdialysates using o-phthaldialdehyde-sulphite derivatization and high-performance liquid chromatography with electrochemical detection.

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Journal of labelled compounds & radiopharmaceuticals·2026

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Journal of chromatographic science·2026

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Analytical and bioanalytical chemistry·2026

Chromatogram-level FID/MS data fusion in comprehensive two-dimensional gas chromatography enables robust quantitative volatilomics: Application to extra virgin olive oil.

Journal of chromatography. A·2026

SPR-UPLC-QTOF/MS-GNPS-Guided Discovery of Hypermonol J as a Novel Tumor Necrosis Factor-Binding Small-Molecule Lead for Inflammatory Storm Intervention.

MedComm·2026

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Analysis of steroids by high-resolution gas-liquid chromatography. II. Application to urinary samples

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Primary percutaneous metal stenting above the ampulla in resectable perihilar cholangiocarcinoma.

A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.

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Molecular and functional analyses of the metC gene of Lactococcus lactis, encoding cystathionine beta-lyase.

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