Localisation of a gene for Darier's disease

Clinical and cost-effectiveness of a personalised guided consultation versus usual physiotherapy care in people presenting with shoulder pain: a protocol for the PANDA-S cluster randomised controlled trial and process evaluation.

BMJ open·2025

The risk of revision surgery after trainee-led primary total hip replacement.

Annals of the Royal College of Surgeons of England·2024

Predicting pain and function outcomes in people consulting with shoulder pain: the PANDA-S clinical cohort and qualitative study protocol.

BMJ open·2021

Three-dimensional microscale hanging drop arrays with geometric control for drug screening and live tissue imaging.

Science advances·2021

Use of implantable meshes for augmented rotator cuff repair: a systematic review and meta-analysis.

BMJ open·2020

Emergence of functional neuromuscular junctions in an engineered, multicellular spinal cord-muscle bioactuator.

APL bioengineering·2020

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Human molecular genetics·2026

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

Human molecular genetics·2026

CRISPR/dCas9-mediated tuning of DMPK transcription reveals a quantitative relationship between toxic repeat RNA expression and MBNL1 activity in myotonic dystrophy.

Human molecular genetics·2026

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

Human molecular genetics·2026

PONG 2.0: allele imputation for the killer cell immunoglobulin-like receptors.

Human molecular genetics·2026

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Human molecular genetics·2026

Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.

Scientific reports·2026

Genetic architecture and inheritance patterns of Leber hereditary optic neuropathy among 419 Chinese pedigrees carrying the ND4 11778G>A mutation.

Journal of genetics and genomics = Yi chuan xue bao·2026

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Clinica chimica acta; international journal of clinical chemistry·2026

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

Brain & development·2026

High-Resolution Physical Mapping and Chromosomal Transmission in Sugarcane Progeny.

The Journal of heredity·2026

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Related Experiment Videos

Localisation of a gene for Darier's disease

Related Concept Videos

Clinical and cost-effectiveness of a personalised guided consultation versus usual physiotherapy care in people presenting with shoulder pain: a protocol for the PANDA-S cluster randomised controlled trial and process evaluation.

The risk of revision surgery after trainee-led primary total hip replacement.

Predicting pain and function outcomes in people consulting with shoulder pain: the PANDA-S clinical cohort and qualitative study protocol.

Three-dimensional microscale hanging drop arrays with geometric control for drug screening and live tissue imaging.

Use of implantable meshes for augmented rotator cuff repair: a systematic review and meta-analysis.

Emergence of functional neuromuscular junctions in an engineered, multicellular spinal cord-muscle bioactuator.

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

CRISPR/dCas9-mediated tuning of DMPK transcription reveals a quantitative relationship between toxic repeat RNA expression and MBNL1 activity in myotonic dystrophy.

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

PONG 2.0: allele imputation for the killer cell immunoglobulin-like receptors.

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.

Genetic architecture and inheritance patterns of Leber hereditary optic neuropathy among 419 Chinese pedigrees carrying the ND4 11778G>A mutation.

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

High-Resolution Physical Mapping and Chromosomal Transmission in Sugarcane Progeny.

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Related Experiment Videos

Localisation of a gene for Darier's disease

Related Concept Videos

Related Articles