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You searched for: Author/Creator Shaw, Nick

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1. Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia. (19th July 2022)

2. Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress. Issue 4 (14th March 2023)

10. Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study. Issue 5 (8th November 2021)