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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 27, 2021
Bone Fractures in Children and Young Adults With Type 1 Diabetes: Age Distribution, Fracture Location, and the Role of Glycemic ControlAlexander J Eckert, Oliver Semler, Dirk Schnabel, et al.
European Journal of Human Genetics : EJHG|June 30, 2026
Parent and professional experiences of a clinical trial of prenatal and postnatal stem cell therapy for severe osteogenesis imperfectaBikiran Behera, Charlotta Ingvoldstad Malmgren, Eva Åström, et al.
Dermatology (Basel, Switzerland)|December 10, 2024
Ehlers-Danlos Syndromes and Related Disorders: Diagnostic Challenges and the Need for an Interdisciplinary Patient Care in GermanyNikolaus Kernich, Franziska Peters, Julia Schreml, et al.
Calcified Tissue International|June 5, 2024
Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in AdulthoodJannie Dahl Hald, Bente Langdahl, Lars Folkestad, et al.
Advances in Therapy|February 5, 2025
Considerations for Anthropometry Specific to People with Disproportionate Short StatureJulie Hoover-Fong, Oliver Semler, Bobbie Barron, et al.
Plos One|January 19, 2024
A patient-centred and multi-stakeholder co-designed observational prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphataemia (XLH)Vrinda Saraff, Annemieke M Boot, Agnès Linglart, et al.
Orphanet Journal of Rare Diseases|February 23, 2023
The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping reviewMaria Rapoport, Michael B Bober, Cathleen Raggio, et al.
American Journal of Human Genetics|August 7, 2012
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callusOliver Semler, Lutz Garbes, Katharina Keupp, et al.
Frontiers in Public Health|January 23, 2023
Patient-reported experience of clinical care of osteogenesis imperfecta (OI) during the COVID-19 pandemicDebra Smyth, Monica Hytiris, Coreen Kelday, et al.
Nature Reviews. Disease Primers|August 19, 2017
Osteogenesis imperfectaJoan C Marini, Antonella Forlino, Hans Peter Bächinger, et al.
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