Classification and identification of inherited brachydactylies

Inhaled vs subcutaneous effects of a dual IL-4/IL-13 antagonist in a monkey model of asthma.

Allergy·2009

Familial pulmonary capillary hemangiomatosis resulting in primary pulmonary hypertension.

Annals of internal medicine·1988

A new acro-cranio-facial dysostosis syndrome in sisters.

American journal of medical genetics·1988

The inheritance of Alzheimer's disease: a new interpretation.

Annals of neurology·1988

Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present.

Human genetics·1987

Radiologic findings in the Proteus syndrome.

Pediatric radiology·1987

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

Humeral Head Geometry: An Analysis of Global Offset against Intramedullary Shaft Diameter and Humeral Head Size: A CT Scan Study.

Journal of shoulder and elbow surgery·2026

Body Composition-Driven Phenotyping Reveals Obesity and Cardiometabolic Heterogeneity in Children Using a Tree-Like Representation.

Diabetes·2026

A Rare Alpha-Globin Mutation: Detailed Analysis of the Hb Rogliano Variant (α1 Cod 108 Thr→Asn).

Hemoglobin·2026

Clinical, Genetic, and Endocrine Features of Bardet-Biedl Syndrome in a Pediatric and Adult Cohort.

American journal of medical genetics. Part A·2026

Cross-trait genetic analysis maps shared polygenic architecture between primary aldosteronism and blood pressure to adrenal cell states.

Journal of translational medicine·2026

Multivariable Associations of Anthropometric and Psychosocial Markers with an Elevated Abdominal Volume Index Among University Students: A Sex- and Academic Program-Stratified Analysis.

Healthcare (Basel, Switzerland)·2026

Related Experiment Videos

Classification and identification of inherited brachydactylies

Related Concept Videos

Inhaled vs subcutaneous effects of a dual IL-4/IL-13 antagonist in a monkey model of asthma.

Familial pulmonary capillary hemangiomatosis resulting in primary pulmonary hypertension.

A new acro-cranio-facial dysostosis syndrome in sisters.

The inheritance of Alzheimer's disease: a new interpretation.

Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present.

Radiologic findings in the Proteus syndrome.

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.

Humeral Head Geometry: An Analysis of Global Offset against Intramedullary Shaft Diameter and Humeral Head Size: A CT Scan Study.

Body Composition-Driven Phenotyping Reveals Obesity and Cardiometabolic Heterogeneity in Children Using a Tree-Like Representation.

A Rare Alpha-Globin Mutation: Detailed Analysis of the Hb Rogliano Variant (α1 Cod 108 Thr→Asn).

Clinical, Genetic, and Endocrine Features of Bardet-Biedl Syndrome in a Pediatric and Adult Cohort.

Cross-trait genetic analysis maps shared polygenic architecture between primary aldosteronism and blood pressure to adrenal cell states.

Multivariable Associations of Anthropometric and Psychosocial Markers with an Elevated Abdominal Volume Index Among University Students: A Sex- and Academic Program-Stratified Analysis.

Related Experiment Videos

Classification and identification of inherited brachydactylies

Related Concept Videos

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