Thrombocytopenia and absent radius (TAR) syndrome

Preservation of erniettomorph fossils in clay-rich siliciclastic deposits from the Ediacaran Wood Canyon Formation, Nevada.

Interface focus·2020

The early history of Pallister-Hall syndrome-Buried treasure of a sort.

Gene·2016

Biliglobulin: a new look at IgA.

Immunology today·2014

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Clinical genetics·2013

Absence of binding of alpha-bungarotoxin and cobra neurotoxin to central acetylcholine receptors - an autoradiographic study.

Neuroscience letters·2009

The importance of the fetal origins of adult disease for geneticists.

Clinical genetics·2007

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

Giant Thrombosed Coronary Aneurysm Causing Recurrent Ischemic Events: Insights From Multimodality Imaging and Surgical Management.

JACC. Case reports·2026

Revisiting the Gray Zone in HBeAg-Negative Chronic Hepatitis B: Insights From a Multicenter Liver Biopsy Cohort.

The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology·2026

Risk of vasovagal reactions among trans versus cisgender whole blood donors.

Vox sanguinis·2026

Upper Versus Lower Gastrointestinal Bleeding in Percutaneous Coronary Intervention Hospitalizations: A National Analysis, 2016-2022.

Digestive diseases and sciences·2026

Paradoxical coronary embolism through an atrial septal defect presenting as acute myocardial infarction: A case report.

Annals of pediatric cardiology·2026

Endovascular repair of a common hepatic artery aneurysm using overlapping self-expanding covered stent grafts.

Journal of vascular surgery cases and innovative techniques·2026

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Thrombocytopenia and absent radius (TAR) syndrome

Related Concept Videos

Preservation of erniettomorph fossils in clay-rich siliciclastic deposits from the Ediacaran Wood Canyon Formation, Nevada.

The early history of Pallister-Hall syndrome-Buried treasure of a sort.

Biliglobulin: a new look at IgA.

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Absence of binding of alpha-bungarotoxin and cobra neurotoxin to central acetylcholine receptors - an autoradiographic study.

The importance of the fetal origins of adult disease for geneticists.

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.

Giant Thrombosed Coronary Aneurysm Causing Recurrent Ischemic Events: Insights From Multimodality Imaging and Surgical Management.

Revisiting the Gray Zone in HBeAg-Negative Chronic Hepatitis B: Insights From a Multicenter Liver Biopsy Cohort.

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Upper Versus Lower Gastrointestinal Bleeding in Percutaneous Coronary Intervention Hospitalizations: A National Analysis, 2016-2022.

Paradoxical coronary embolism through an atrial septal defect presenting as acute myocardial infarction: A case report.

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Thrombocytopenia and absent radius (TAR) syndrome

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