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Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
Balasubramanian M, Hurst J, Brown S, Bishop NJ, Arundel P, DeVile C, Pollitt RC, Crooks L, Longman D, Caceres JF, Shackley F, Connolly S, Payne JH, Offiah AC, Hughes D; DDD Study; Parker MJ, Hide W, Skerry TM. Balasubramanian M, et al. Among authors: bishop nj. Bone. 2017 Jan;94:65-74. doi: 10.1016/j.bone.2016.10.023. Epub 2016 Oct 24. Bone. 2017. PMID: 27789416 Free PMC article.
Type V osteogenesis imperfecta: a new form of brittle bone disease.
Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ. Glorieux FH, et al. Among authors: bishop nj. J Bone Miner Res. 2000 Sep;15(9):1650-8. doi: 10.1359/jbmr.2000.15.9.1650. J Bone Miner Res. 2000. PMID: 10976985 Free article. Clinical Trial.
Type 1 collagenopathy presenting with a Russell-Silver phenotype.
Parker MJ, Deshpande C, Rankin J, Wilson LC, Balasubramanian M, Hall CM, Wagner BE, Pollitt R, Dalton A, Bishop NJ. Parker MJ, et al. Among authors: bishop nj. Am J Med Genet A. 2011 Jun;155A(6):1414-8. doi: 10.1002/ajmg.a.33998. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567925
182 results