publication venue for
- Health-related quality of life in individuals with osteogenesis imperfecta in the United States: a cross-sectional study.. 20. 2025
- Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.. 20. 2025
- A Natural History Study of Timothy Syndrome.. 19. 2024
- The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults.. 19. 2024
- The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers.. 19. 2024
- Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.. 17. 2022
- Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.. 16. 2021
- Best practice guidelines for management of spinal disorders in skeletal dysplasia.. 15. 2020
- The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness study.. 13. 2018
- Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?. 7. 2012
- Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.. 7. 2012
- Pathologic substrate of gastropathy in Anderson-Fabry disease.. 15. 2020
- Linear scleroderma "en coup de sabre" with extensive brain involvement-Clinicopathologic correlations and response to anti-Interleukin-6 therapy.. 14. 2019
- Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy.. 12. 2017
- Diffuse reduction of cerebral grey matter volumes in Erdheim-Chester disease.. 11. 2016
- Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.. 9. 2014
- The effects of Eculizumab on the pathology of malignant atrophic papulosis.. 8. 2013
- Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.. 7. 2012
- The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review. 2023
- Gastrointestinal Kohlmeier-Degos disease: a narrative review. 2022
- Rosai-Dorfman-Destombes disease of the nervous system: a systematic literature review. 2022
- Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. 2022
- Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses. 2019
- Thalassemias in South Asia: clinical lessons learnt from Bangladesh. 2017