ABC of clinical genetics. Estimation of risk

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Atmospheric pressure microwave sample preparation procedure for the combined analysis of total phosphorus and kjeldahl nitrogen.

Analytical chemistry·2011

α-Galactosidase A expressed in the salivary glands partially corrects organ biochemical deficits in the fabry mouse through endocrine trafficking.

Human gene therapy·2010

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

Neurology·2008

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

American journal of human genetics·2007

A new method to assess mercury emissions: a study of three coal-fired electric-generating power station configurations.

Journal of the Air & Waste Management Association (1995)·2003

When I use a word . . . Alumni of the Edinburgh Medical School 1726-2026: Robert Darwin versus William Withering.

BMJ (Clinical research ed.)·2026

Secondary use and scholarly impact of a portfolio of clinical trials with shared individual participant level data: cross sectional study.

BMJ (Clinical research ed.)·2026

Thiazide Diuretics Are Associated with a Higher Triglyceride-Glucose Index Than Calcium Channel Blockers in Hypertensive Patients.

International journal of general medicine·2026

Shared genetic architecture between major depression and intrinsic brain functional connectome organization.

Progress in neuro-psychopharmacology & biological psychiatry·2026

Chronic Ethanol Exposure Alters the Expression of Genes Associated with GPCR-Related Signaling in the Olfactory Bulb of Male Mice.

Alcohol (Fayetteville, N.Y.)·2026

Activity-dependent DNA methylation and demethylation: epigenetic regulators of learning and memory.

Neurobiology of disease·2026

Exploratory definition of a clinically meaningful change in intracranial EEG features: Analysis of data from a long-term treatment study of the RNS® System.

Epilepsy & behavior : E&B·2026

Gaze fixation stability is a transdiagnostic marker of major psychiatric disorders: A high-density family-based study.

Psychiatry research·2026

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Overview of 'Omics Technologies for Military Occupational Health Surveillance and Medicine.

Atmospheric pressure microwave sample preparation procedure for the combined analysis of total phosphorus and kjeldahl nitrogen.

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Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

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