Items where authors include "Pollitt, R.C."
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Balasubramanian, M. orcid.org/0000-0003-1488-3695, Fratzl-Zelman, N., O'Sullivan, R. et al. (9 more authors) (2018) Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties. American Journal of Medical Genetics Part A, 176 (7). pp. 1578-1586. ISSN 1552-4825
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Padidela, R., Pollitt, R.C. orcid.org/0000-0002-8864-397X et al. (6 more authors) (2018) P4HB recurrent missense mutation causing Cole-Carpenter syndrome. Journal of Medical Genetics, 55 (3). pp. 158-165. ISSN 0022-2593
Giunta, C., Baumann, M., Fauth, C. et al. (27 more authors) (2018) A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genetics in Medicine, 20 (1). pp. 42-54. ISSN 1098-3600
Marshall, C., Lopez, J., Crookes, L. et al. (2 more authors) (2016) A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly. Gene, 595 (1). pp. 49-52. ISSN 0378-1119
Marshall, C.J., Arundel, P., Mushtaq, T. et al. (4 more authors) (2016) Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta. American Journal of Medical Genetics Part A, 170 (12). pp. 3303-3307. ISSN 1552-4825
Pollitt, R.C. orcid.org/0000-0002-8864-397X, Saraff, V., Dalton, A. et al. (10 more authors) (2016) Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations. American Journal of Medical Genetics Part A. ISSN 1552-4825
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Hurst, J., Brown, S. et al. (16 more authors) (2016) Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. Bone, 94. pp. 65-74. ISSN 8756-3282
Proceedings Paper
Sithambaram, S., Bishop, N., Shankar, L. et al. (5 more authors) (2017) Osteogenesis imperfecta type VI presenting as suspected physical abuse -- a report of two cases. In: Bone Abstracts. 8th International Conference on Children's Bone Health , 10-13 Jun 2017, Wurzburg, Germany. Bioscientifica , Bristol, UK .