Micromelia, polysyndactyly, multiple malformations, and fragile bones in a stillborn child

Mortality, hepatopathy and liver copper concentrations in artificially reared Jersey calves before and after reductions in copper supplementation.

The Veterinary record·2012

Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour.

European journal of medical genetics·2010

Ethical, legal, and practical concerns about recontacting patients to inform them of new information: the case in medical genetics.

American journal of medical genetics·2001

APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews.

Gastroenterology·2001

A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center.

Clinical genetics·2000

A pilot study of the possible role of familial defects in anticoagulation as a cause for terminal limb reduction malformations.

Clinical genetics·2000

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Journal of medical genetics·2026

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Journal of medical genetics·2026

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

Characterization of Patient-Reported Sleep and Mood Symptoms in Chronic Mild Traumatic Brain Injury.

The Laryngoscope·2026

Erratum: Microdystrophins partially rescue deficits of Duchenne muscular dystrophy iPSC-cardiomyocytes.

Molecular therapy. Advances·2026

Cordycepin protects against simulated microgravity-induced osteogenic impairment involving ferroptosis-related signaling.

Biochemical pharmacology·2026

Mycobacterium abscessus soft tissue infections associated with subcutaneous injection of lipolytic agents: An outbreak report and novel molecular epidemiology analysis approach.

Canada communicable disease report = Releve des maladies transmissibles au Canada·2026

Comparative Evaluation of Conventional and Molecular Methods for the Diagnosis of Onychomycosis.

Cureus·2026

Health related quality of life and cardiac symptoms following admission for suspected MINOCA: A post-hoc analysis of the MINOCA-BAT randomized clinical trial.

American heart journal plus : cardiology research and practice·2026

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Micromelia, polysyndactyly, multiple malformations, and fragile bones in a stillborn child

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Mortality, hepatopathy and liver copper concentrations in artificially reared Jersey calves before and after reductions in copper supplementation.

Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour.

Ethical, legal, and practical concerns about recontacting patients to inform them of new information: the case in medical genetics.

APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews.

A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center.

A pilot study of the possible role of familial defects in anticoagulation as a cause for terminal limb reduction malformations.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Characterization of Patient-Reported Sleep and Mood Symptoms in Chronic Mild Traumatic Brain Injury.

Erratum: Microdystrophins partially rescue deficits of Duchenne muscular dystrophy iPSC-cardiomyocytes.

Cordycepin protects against simulated microgravity-induced osteogenic impairment involving ferroptosis-related signaling.

Mycobacterium abscessus soft tissue infections associated with subcutaneous injection of lipolytic agents: An outbreak report and novel molecular epidemiology analysis approach.

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Health related quality of life and cardiac symptoms following admission for suspected MINOCA: A post-hoc analysis of the MINOCA-BAT randomized clinical trial.

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Micromelia, polysyndactyly, multiple malformations, and fragile bones in a stillborn child

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