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

Quantification of tadalafil in HLMs using an ultrafast UPLC-MS/MS method to assess metabolic stability, including in silico analysis of metabolic lability, DEREK alerts, and ADME characteristics.

Analytical methods : advancing methods and applications·2026

When an AI-generated diagnosis begins to matter: the AI consequence point.

Diagnosis (Berlin, Germany)·2026

Central Nervous System Aspergillosis: Advances in Diagnosis, Therapeutics, and Multidisciplinary Management (2026 Update).

Mycoses·2026

NAFLD becomes MASLD, frequency and characteristics of non-obese metabolic dysfunction associated steatotic liver disease (MASLD) among patients seeking care at a tertiary medical facility.

JPMA. The Journal of the Pakistan Medical Association·2026

A Dual-Mode In Situ EV-miRNA Profiling Platform for Machine-Learning-Assisted Gastric Cancer Liquid Biopsy.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

Applications of AI-assisted interpreter Raman spectroscopy platform for rapid and accurate cefotaxime-resistant Escherichia coli classification.

Analytica chimica acta·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.

Quantification of tadalafil in HLMs using an ultrafast UPLC-MS/MS method to assess metabolic stability, including in silico analysis of metabolic lability, DEREK alerts, and ADME characteristics.

When an AI-generated diagnosis begins to matter: the AI consequence point.

Central Nervous System Aspergillosis: Advances in Diagnosis, Therapeutics, and Multidisciplinary Management (2026 Update).

NAFLD becomes MASLD, frequency and characteristics of non-obese metabolic dysfunction associated steatotic liver disease (MASLD) among patients seeking care at a tertiary medical facility.

A Dual-Mode In Situ EV-miRNA Profiling Platform for Machine-Learning-Assisted Gastric Cancer Liquid Biopsy.

Applications of AI-assisted interpreter Raman spectroscopy platform for rapid and accurate cefotaxime-resistant Escherichia coli classification.

Related Experiment Videos

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

Related Concept Videos

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