Prenatal testing for Huntington's disease: experience within the UK 1994-1998

Loneliness in young people: a multilevel exploration of social ecological influences and geographic variation.

Journal of public health (Oxford, England)·2022

Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France.

Clinical genetics·2017

Genetic rescue, the greater prairie chicken and the problem of conservation reliance in the Anthropocene.

Royal Society open science·2017

Psychological Model for Presymptomatic Test Interviews: Lessons Learned from Huntington Disease.

Journal of genetic counseling·2015

Exercise testing and training in people with Huntington's disease.

Clinical rehabilitation·2014

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.

Muscle & nerve. Supplement·2013

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

Molecular characterization of a rare norovirus GII.8[P8] strain detected during pediatric acute gastroenteritis surveillance in Harbin, China.

Virus genes·2026

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

American journal of medical genetics. Part A·2026

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants: A Case Report.

Neurology. Genetics·2026

Unmasked Behavioral Disturbance Following Traumatic Brain Injury in an Adult With Previously Undiagnosed Sotos Syndrome.

Cureus·2026

Genetic profile of motor neuron disease in a multiregional Brazilian cohort: an 18-year real-world experience in 1,911 patients.

Frontiers in neurology·2026

Distinct neurogenic progenitor cell populations balance cell type production in the embryonic mouse retina.

bioRxiv : the preprint server for biology·2026

Related Experiment Videos

Prenatal testing for Huntington's disease: experience within the UK 1994-1998

Related Concept Videos

Loneliness in young people: a multilevel exploration of social ecological influences and geographic variation.

Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France.

Genetic rescue, the greater prairie chicken and the problem of conservation reliance in the Anthropocene.

Psychological Model for Presymptomatic Test Interviews: Lessons Learned from Huntington Disease.

Exercise testing and training in people with Huntington's disease.

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.

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.

Molecular characterization of a rare norovirus GII.8[P8] strain detected during pediatric acute gastroenteritis surveillance in Harbin, China.

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants: A Case Report.

Unmasked Behavioral Disturbance Following Traumatic Brain Injury in an Adult With Previously Undiagnosed Sotos Syndrome.

Genetic profile of motor neuron disease in a multiregional Brazilian cohort: an 18-year real-world experience in 1,911 patients.

Distinct neurogenic progenitor cell populations balance cell type production in the embryonic mouse retina.

Related Experiment Videos

Prenatal testing for Huntington's disease: experience within the UK 1994-1998

Related Concept Videos

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