publication venue for
- The effects of Eculizumab on the pathology of malignant atrophic papulosis. 2013
- Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.. 17. 2022
- Rosai-Dorfman-Destombes disease of the nervous system: a systematic literature review.. 17. 2022
- Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.. 16. 2021
- Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study.. 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
- Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.. 11. 2016
- 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
- Linear scleroderma "en coup de sabre" with extensive brain involvement-Clinicopathologic correlations and response to anti-Interleukin-6 therapy. 2019
- The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review. 2023
- Gastrointestinal Kohlmeier-Degos disease: a narrative review. 2022
- Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses. 2019