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

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

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

Role Framing and Trust in Medical AI: Evidence from a Scenario Experiment and EEG.

Journal of visualized experiments : JoVE·2026

Artificial Intelligence and Complementary Digital Health Technologies Across the Travel Medicine Continuum: A Narrative Review.

Journal of travel medicine·2026

More efficient screening for preclinical Alzheimer's clinical trials using mixture of experts.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026

[Technical medicine in orthognathic surgery: from imaging to surgery].

Nederlands tijdschrift voor tandheelkunde·2026

Capturing Pathology Workload Associated With Precision Oncology.

Federal practitioner : for the health care professionals of the VA, DoD, and PHS·2026

Optimization of protein electrophoresis test orders: results after the implementation of a protocol based on scientific recommendations.

Advances in laboratory medicine·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.

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

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.

Role Framing and Trust in Medical AI: Evidence from a Scenario Experiment and EEG.

Artificial Intelligence and Complementary Digital Health Technologies Across the Travel Medicine Continuum: A Narrative Review.

More efficient screening for preclinical Alzheimer's clinical trials using mixture of experts.

[Technical medicine in orthognathic surgery: from imaging to surgery].

Capturing Pathology Workload Associated With Precision Oncology.

Optimization of protein electrophoresis test orders: results after the implementation of a protocol based on scientific recommendations.

Related Experiment Videos

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

Related Concept Videos

Related Articles