Items where authors include "Burren, C.P."
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Blakes, A.J.M., Wai, H.A., Davies, I. et al. (16 more authors) (2022) A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. Genome Medicine, 14 (1). 79. ISSN 1756-994X
Wadanamby, S., El Garwany, S., DJA, C. et al. (8 more authors) (2022) Monitoring skull base abnormalities in children with osteogenesis imperfecta – Review of current practice and a suggested clinical pathway. Bone, 154. 116235. ISSN 8756-3282
Edgerley, K., Barnicoat, A., Offiah, A.C. orcid.org/0000-0001-8991-5036 et al. (13 more authors) (2021) AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination. American Journal of Medical Genetics Part A, 185 (4). pp. 1228-1235. ISSN 1552-4825
Ashraf, T., Vaina, C., Giri, D. et al. (7 more authors) (2020) Expanding the phenotypic spectrum of IFT81 : associated ciliopathy syndrome. American Journal of Medical Genetics Part A, 182 (10). pp. 2403-2408. ISSN 1552-4825
Kanani, F. orcid.org/0000-0003-4388-0290, Parker, M.J., Burren, C.P. et al. (2 more authors) (2019) Clinical report follow up: Type 1 Collagenopathy presenting with a Russell-Silver phenotype. American Journal of Medical Genetics Part A , 179 (1). pp. 139-140. ISSN 1552-4825