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Genotype-phenotype study in type V osteogenesis imperfecta.
Balasubramanian M, Parker MJ, Dalton A, Giunta C, Lindert U, Peres LC, Wagner BE, Arundel P, Offiah A, Bishop NJ. Balasubramanian M, et al. Among authors: wagner be. Clin Dysmorphol. 2013 Jul;22(3):93-101. doi: 10.1097/MCD.0b013e32836032f0. Clin Dysmorphol. 2013. PMID: 23612438
De Barsy syndrome: a review of the phenotype.
Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G. Kivuva EC, et al. Among authors: wagner be. Clin Dysmorphol. 2008 Apr;17(2):99-107. doi: 10.1097/MCD.0b013e3282f4a964. Clin Dysmorphol. 2008. PMID: 18388779 Review.
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: wagner be. 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
P4HB recurrent missense mutation causing Cole-Carpenter syndrome.
Balasubramanian M, Padidela R, Pollitt RC, Bishop NJ, Mughal MZ, Offiah AC, Wagner BE, McCaughey J, Stephens DJ. Balasubramanian M, et al. Among authors: wagner be. J Med Genet. 2018 Mar;55(3):158-165. doi: 10.1136/jmedgenet-2017-104899. Epub 2017 Dec 20. J Med Genet. 2018. PMID: 29263160 Free article.
62 results