Eight years' experience of direct molecular testing for myotonic dystrophy in Wales

Assessing the performance of motorcyclists' impact protectors in simulated ATD knee and shoulder impacts.

Traffic injury prevention·2019

Equestrian-related injuries, predictors of fatalities, and the impact on the public health system in Sweden.

Public health·2019

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

Neuropediatrics·2017

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

Clinical genetics·2017

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

Human genomics·2016

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

Journal of genetic counseling·2015

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Journal of medical genetics·2026

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Journal of medical genetics·2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal of medical genetics·2026

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

Extracellular vesicles redefine glioma detection.

Trends in molecular medicine·2026

Value of the Newly Designed Major and Minor Checklists in Diagnosis of Congenital Cardiovascular Disease and Associated Malformation: New Era of Fetal Cardiac MRI.

Academic radiology·2026

Diagnostic performance of third-generation sequencing for tuberculous pericarditis: a systematic review and meta-analysis protocol.

BMJ open·2026

Prediction Markets in Dermatology: Ethical Considerations for Physicians.

Clinics in dermatology·2026

Medical therapy of MASLD - consequences of the paradigm shift from histology to non-invasive tests.

JHEP reports : innovation in hepatology·2026

Photoelectrochemical highly efficient detection of β-amyloid 1-42 based on in-situ grown donor-acceptor covalent organic frameworks combined with dual-aptamer sandwich amplification strategy.

Talanta·2026

Related Experiment Videos

Eight years' experience of direct molecular testing for myotonic dystrophy in Wales

Related Concept Videos

Assessing the performance of motorcyclists' impact protectors in simulated ATD knee and shoulder impacts.

Equestrian-related injuries, predictors of fatalities, and the impact on the public health system in Sweden.

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

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

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

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

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Extracellular vesicles redefine glioma detection.

Value of the Newly Designed Major and Minor Checklists in Diagnosis of Congenital Cardiovascular Disease and Associated Malformation: New Era of Fetal Cardiac MRI.

Diagnostic performance of third-generation sequencing for tuberculous pericarditis: a systematic review and meta-analysis protocol.

Prediction Markets in Dermatology: Ethical Considerations for Physicians.

Medical therapy of MASLD - consequences of the paradigm shift from histology to non-invasive tests.

Photoelectrochemical highly efficient detection of β-amyloid 1-42 based on in-situ grown donor-acceptor covalent organic frameworks combined with dual-aptamer sandwich amplification strategy.

Related Experiment Videos

Eight years' experience of direct molecular testing for myotonic dystrophy in Wales

Related Concept Videos

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