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Lancet (London, England)|August 10, 2013
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trialNick Bishop, Silvano Adami, S Faisal Ahmed, et al.
Orphanet Journal of Rare Diseases|June 26, 2023
Real-world evidence in achondroplasia: considerations for a standardized data setYasemin Alanay, Klaus Mohnike, Ola Nilsson, et al.
Orphanet Journal of Rare Diseases|March 16, 2023
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational studyMohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, et al.
Orphanet Journal of Rare Diseases|March 21, 2021
A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfectaWouter Nijhuis, Anton Franken, Kara Ayers, et al.
NPJ Genomic Medicine|November 18, 2025
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and PhenopacketsAdam S L Graefe, Filip Rehburg, Samer Alkarkoukly, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperabilityAdam S L Graefe, Filip Rehburg, Samer Alkarkoukly, et al.
American Journal of Human Genetics|March 19, 2013
Mutations in WNT1 cause different forms of bone fragilityKatharina Keupp, Filippo Beleggia, Hülya Kayserili, et al.
American Journal of Human Genetics|October 1, 2019
Autosomal-Recessive Mutations in MESD Cause Osteogenesis ImperfectaShahida Moosa, Guilherme L Yamamoto, Lutz Garbes, et al.
American Journal of Human Genetics|October 14, 2020
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2Fleur S van Dijk, Oliver Semler, Julia Etich, et al.
Calcified Tissue International|November 13, 2024
Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis ImperfectaLuca Celli, Mark R Garrelfs, Ralph J B Sakkers, et al.
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