Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Ophthalmic Genetics|August 26, 2025
Neuro-ophthalmic complications of endosteal hyperostosis, Worth type: the importance of ophthalmic monitoringAisling Higham, Laura M Watts, Dipesh Rao, et al.
Clinical Genetics|April 22, 2025
Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory InsufficiencyLaura M Watts, Esther Kinning, Donald R Latner, et al.
Bone|March 26, 2025
The GWAS candidate far upstream element binding protein 3 (FUBP3) is required for normal skeletal growth, and adult bone mass and strength in miceLaura M Watts, Penny C Sparkes, Hannah F Dewhurst, et al.
European Journal of Human Genetics : EJHG|May 17, 2024
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patientsLaura M Watts, Marta Bertoli, Tania Attie-Bitach, et al.
Biorxiv : the Preprint Server for Biology|January 23, 2026
Modulating splicing in 5' untranslated regions to treat rare haploinsufficient diseaseEloise S Beer Wells, Laura De Conti, Hyung Chul Kim, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project dataValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2026
Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosisLaura M Watts, Michelle S M Chang, Elizabeth Lewis-Orr, et al.
Pageof 1