Improved detection of beta-thalassaemia carriers by a two-test method

A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant.

Canadian Medical Association journal·2010

What we know that could influence future treatment of phenylketonuria.

Journal of inherited metabolic disease·2008

The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England.

Annals of human genetics·2008

Recommendations for locus-specific databases and their curation.

Human mutation·2007

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene.

Human mutation·2006

After the genome--the phenome?

Journal of inherited metabolic disease·2004

Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

Human genetics·2026

Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

Human genetics·2026

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

Human genetics·2026

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Human genetics·2026

Identification of a novel isoform of Slc26a4 by single-cell RNA-sequencing of pendrin-expressing cells in the cochlea.

Human genetics·2026

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

Human genetics·2026

Digital Pathology-Enabled Artificial Intelligence for Fibrosis Assessment in Metabolic Dysfunction-Associated Steatohepatitis: Needs, Current Progress, and Barriers.

Journal of clinical and experimental hepatology·2026

Effect of Rapid Molecular Diagnostic Implementation on Time to Targeted Antibiotic Treatment for Bloodstream Infections: A Before-and-After Study at a Community Teaching Hospital.

The Senior care pharmacist·2026

Early prediction of carbapenem resistance phenotype in ICU-acquired Acinetobacter baumannii infection before susceptibility reporting: a temporally validated study.

International journal of antimicrobial agents·2026

Perception of Medical Laboratory Professionals on the Role of Artificial Intelligence in Advancing Hematology Diagnostics.

Clinical laboratory·2026

Evaluation of a Rapid Confirmatory Human Immunodeficiency Virus Test: Overall Performance and Band Analysis.

Clinical laboratory·2026

Dual-functional fluorescent probe for rapid monitoring of bisulfite and viscosity in biosystem and foods.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2026

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Improved detection of beta-thalassaemia carriers by a two-test method

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A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant.

What we know that could influence future treatment of phenylketonuria.

The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England.

Recommendations for locus-specific databases and their curation.

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene.

After the genome--the phenome?

Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Identification of a novel isoform of Slc26a4 by single-cell RNA-sequencing of pendrin-expressing cells in the cochlea.

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Effect of Rapid Molecular Diagnostic Implementation on Time to Targeted Antibiotic Treatment for Bloodstream Infections: A Before-and-After Study at a Community Teaching Hospital.

Early prediction of carbapenem resistance phenotype in ICU-acquired Acinetobacter baumannii infection before susceptibility reporting: a temporally validated study.

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Improved detection of beta-thalassaemia carriers by a two-test method

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