Congenital intestinal pseudo-obstruction associated with a giant platelet disorder

A multicentre randomised controlled trial and economic evaluation of ion-exchange water softeners for the treatment of eczema in children: the Softened Water Eczema Trial (SWET).

Health technology assessment (Winchester, England)·2011

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Clinical genetics·2009

Clinical teaching in paediatrics: understanding perceptions, motives and concerns.

Archives of disease in childhood·2008

A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.

Animal genetics·2008

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

Cardiology·2008

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

Heart (British Cardiac Society)·2008

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

Computed Tomography Use and Indications in Children With and Without Chronic Health Conditions.

The Permanente journal·2026

Bioelectrical impedance parameters and nutritional status of pediatric patients with hematological malignancies: a cross-sectional study.

Nutricion hospitalaria·2026

Understanding Parental Behaviours Related to Infant Sleep Environment: A Qualitative Study.

Child: care, health and development·2026

Comparative Analysis of Reported Adverse Events with Nirsevimab and Palivizumab in the FAERS Database.

Kansas journal of medicine·2026

Therapeutic potential of nutritional aryl hydrocarbon receptor ligands for respiratory syncytial virus infection: a mini review.

Frontiers in microbiology·2026

Prevalence and Determinants of Bed-Sharing Among Infants and Toddlers in Jeddah, Saudi Arabia: A Cross-Sectional Study.

Nature and science of sleep·2026

Related Experiment Videos

Congenital intestinal pseudo-obstruction associated with a giant platelet disorder

Related Concept Videos

A multicentre randomised controlled trial and economic evaluation of ion-exchange water softeners for the treatment of eczema in children: the Softened Water Eczema Trial (SWET).

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Clinical teaching in paediatrics: understanding perceptions, motives and concerns.

A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

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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.

Computed Tomography Use and Indications in Children With and Without Chronic Health Conditions.

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Comparative Analysis of Reported Adverse Events with Nirsevimab and Palivizumab in the FAERS Database.

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Congenital intestinal pseudo-obstruction associated with a giant platelet disorder

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