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Journal of Medical Genetics|December 15, 2012
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patientsFrank Rauch, Pierre Moffatt, Moira Cheung, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 14, 2024
Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysisAlistair D Calder, Jeremy Allgrove, Jakob Höppner, et al.Pediatric Radiology|September 6, 2023
Recommendations for neuroradiological examinations in children living with achondroplasia: a European Society of Pediatric Radiology and European Society of Neuroradiology opinion paperJenny Wright, Moira Cheung, Ata Siddiqui, et al.Transplantation Direct|March 23, 2022
Simultaneous Kidney and Parathyroid Transplantation in the Management of Genetic Hypoparathyroidism in a ChildNatalie Vallant, Manish D Sinha, Moira Cheung, et al.The Lancet. Diabetes & Endocrinology|April 27, 2026
Safety, tolerability, pharmacokinetics, and efficacy of burosumab in infants with X-linked hypophosphataemia: an open-label, multicentre, non-randomised studyAgnès Linglart, Francesco Emma, Justine Bacchetta, et al.Advances in Therapy|February 28, 2026
Pathways to Facilitate Early Recognition and Diagnosis of HypochondroplasiaMelita Irving, Elena Greco, Alessandra Cocca, et al.Pageof 2