Louise Thompson
Edinburgh, SCT, United Kingdom
Last Updated: 09/26/2026
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Found 10 publications
Gene2Phenotype: A Database of Structured Human Monogenic Diseases and Pathomechanisms.
Journal: Journal of molecular biology
Published: October 31, 2025
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.
Journal: Nature communications
Published: September 23, 2025
Detection of a new heterozygous pathogenic NFIA variant in metopic craniosynostosis with preaxial polysyndactyly: A case report.
Journal: JPRAS open
Published: February 14, 2025
'We're all in the same boat … some of us just have more holes in their boat': a qualitative interview study of primary care staff views of Deep End Cymru.
Journal: BJGP open
Published: January 24, 2025
Curating genomic disease-gene relationships with Gene2Phenotype (G2P).
Journal: Genome medicine
Published: March 01, 2024
Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants.
Journal: Clinical dysmorphology
Published: December 01, 2023
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.
Journal: Clinical dysmorphology
Published: March 06, 2023
Optiflow™ Switch: A design modification that can extend safe apnoeic oxygenation (THRIVE) time for tubeless airway surgery. A case series.
Journal: Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery
Published: February 09, 2022
A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection.
Journal: PLoS biology
Published: November 05, 2020
Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.
Journal: Orphanet journal of rare diseases
Published: October 29, 2020
Showing 1-10 of 10
Last Updated: 09/26/2026