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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: mughal mz. 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.
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Pollitt RC, Saraff V, Dalton A, Webb EA, Shaw NJ, Sobey GJ, Mughal MZ, Hobson E, Ali F, Bishop NJ, Arundel P, Högler W, Balasubramanian M. Pollitt RC, et al. Among authors: mughal mz. Am J Med Genet A. 2016 Dec;170(12):3150-3156. doi: 10.1002/ajmg.a.37958. Epub 2016 Aug 30. Am J Med Genet A. 2016. PMID: 27576954 Free article.
Rapid assessment of dietary calcium intake.
Nordblad M, Graham F, Mughal MZ, Padidela R. Nordblad M, et al. Among authors: mughal mz. Arch Dis Child. 2016 Jul;101(7):634-6. doi: 10.1136/archdischild-2015-308905. Epub 2015 Dec 10. Arch Dis Child. 2016. PMID: 26662924
Amalgamated Reference Data for Size-Adjusted Bone Densitometry Measurements in 3598 Children and Young Adults-the ALPHABET Study.
Crabtree NJ, Shaw NJ, Bishop NJ, Adams JE, Mughal MZ, Arundel P, Fewtrell MS, Ahmed SF, Treadgold LA, Högler W, Bebbington NA, Ward KA; ALPHABET Study Team. Crabtree NJ, et al. Among authors: mughal mz. J Bone Miner Res. 2017 Jan;32(1):172-180. doi: 10.1002/jbmr.2935. Epub 2016 Sep 7. J Bone Miner Res. 2017. PMID: 27490028 Free PMC article.
149 results