Discover open access scientific publications

Search, annotate, share and cite publications

Publications by David Dimmock

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics

English

Rapid Whole Genome Sequencing Identifies a Novel AIRE Variant Associated With Autoimmune Polyendocrine Syndrome Type 1

Cold Spring Harbor molecular case studies

Molecular Medicine

English

Reduced Mitochondrial DNA Content and Heterozygous Nuclear Gene Mutations in Patients With Acute Liver Failure

Journal of Pediatric Gastroenterology and Nutrition

Gastroenterology

English

Clinical Diagnostic Whole Genome Sequencing in a Paediatric Population: Experience From Our WGS Genetics Clinic

BMC Proceedings

Molecular Biology

English

Diagnosis and Treatment of a Boy With IPEX Syndrome Presenting With Diabetes in Early Infancy

Clinical Case Reports

English

Related publications

Use of Anthrax Vaccine in the United States: Recommendations of the Advisory Committee on Immunization Practices, 2019

MMWR. Recommendations and reports : Morbidity and mortality weekly report. Recommendations and reports / Centers for Disease Control

Health Information Management

English

Preexposure Prophylaxis for Prevention of HIV Acquisition Among Adolescents: Clinical Considerations, 2020

MMWR. Recommendations and reports : Morbidity and mortality weekly report. Recommendations and reports / Centers for Disease Control

Health Information Management

English

Spatial Organization and Signal Transduction at Intercellular Junctions

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Talins and Kindlins: Partners in Integrin-Mediated Adhesion

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Molecular Control of Endothelial Cell Behaviour During Blood Vessel Morphogenesis

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Multidimensional Proteomics for Cell Biology

Nature Reviews Molecular Cell Biology

Molecular Biology

English

DNA Methylation Pathways and Their Crosstalk With Histone Methylation

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Transcriptional Integration of Metabolism by the Nuclear Sterol-Activated Receptors LXR and FXR

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Tail-Anchored Membrane Protein Insertion Into the Endoplasmic Reticulum

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Dynamin, a Membrane-Remodelling GTPase

Nature Reviews Molecular Cell Biology

Molecular Biology

English