A three way translocation in mother and daughter

Gene essentiality in Aspergillus fumigatus.

Medical mycology·2018

Ligand-gated Ca2+ channels and Ca2+ signalling in higher plants.

Journal of experimental botany·2011

Shape discrimination by total curvature, with a view to cancer diagnostics.

Journal of microscopy·2005

A new autosomal dominant pure cerebellar ataxia.

Neurology·2001

Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness.

The Medical journal of Australia·2001

Combining genetics and cell biology to crack the code of plant cell calcium signaling.

Science's STKE : signal transduction knowledge environment·2001

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

Maternal Characteristics and Social Risk Factors Linked to Nonresponsive Feeding Styles in Early Childhood Within a Diverse Sample.

Journal of nutrition education and behavior·2026

Psychological Factors and Personality Traits Influencing the Experience and Perception of Pain in Women Undergoing Mammography: Protocol for a Cross-Sectional Study.

JMIR research protocols·2026

Case 353.

Radiology·2026

Modified umbilical artery Doppler scoring system based on multisite assessment: association with perinatal outcome in early and late fetal growth restriction.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2026

A 6-Month-Old Infant with Episodes of Unresponsiveness.

NEJM evidence·2026

Prediction of Pregnancy Complications Related to Placental Dysfunction: Protocol for a Prospective Cohort Study (Placental Health Study).

JMIR research protocols·2026

Related Experiment Videos

A three way translocation in mother and daughter

Related Concept Videos

Gene essentiality in Aspergillus fumigatus.

Ligand-gated Ca2+ channels and Ca2+ signalling in higher plants.

Shape discrimination by total curvature, with a view to cancer diagnostics.

A new autosomal dominant pure cerebellar ataxia.

Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness.

Combining genetics and cell biology to crack the code of plant cell calcium signaling.

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.

Maternal Characteristics and Social Risk Factors Linked to Nonresponsive Feeding Styles in Early Childhood Within a Diverse Sample.

Psychological Factors and Personality Traits Influencing the Experience and Perception of Pain in Women Undergoing Mammography: Protocol for a Cross-Sectional Study.

Case 353.

Modified umbilical artery Doppler scoring system based on multisite assessment: association with perinatal outcome in early and late fetal growth restriction.

A 6-Month-Old Infant with Episodes of Unresponsiveness.

Prediction of Pregnancy Complications Related to Placental Dysfunction: Protocol for a Prospective Cohort Study (Placental Health Study).

Related Experiment Videos

A three way translocation in mother and daughter

Related Concept Videos

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