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114 results

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Page 1
Development in children with achondroplasia: a prospective clinical cohort study.
Ireland PJ, Donaghey S, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S, Johnston LM. Ireland PJ, et al. Among authors: zankl a. Dev Med Child Neurol. 2012 Jun;54(6):532-7. doi: 10.1111/j.1469-8749.2012.04234.x. Epub 2012 Mar 12. Dev Med Child Neurol. 2012. PMID: 22409389 Free article.
Functional performance in young Australian children with achondroplasia.
Ireland PJ, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson EM, Townshend S, Johnston LM. Ireland PJ, et al. Among authors: zankl a. Dev Med Child Neurol. 2011 Oct;53(10):944-50. doi: 10.1111/j.1469-8749.2011.04050.x. Epub 2011 Aug 12. Dev Med Child Neurol. 2011. PMID: 21838822 Free article.
Optimal management of complications associated with achondroplasia.
Ireland PJ, Pacey V, Zankl A, Edwards P, Johnston LM, Savarirayan R. Ireland PJ, et al. Among authors: zankl a. Appl Clin Genet. 2014 Jun 24;7:117-25. doi: 10.2147/TACG.S51485. eCollection 2014. Appl Clin Genet. 2014. PMID: 25053890 Free PMC article. Review.
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R. Andreucci E, et al. Among authors: zankl a. Orphanet J Rare Dis. 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37. Orphanet J Rare Dis. 2011. PMID: 21658220 Free PMC article.
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.
Lazarus S, McInerney-Leo AM, McKenzie FA, Baynam G, Broley S, Cavan BV, Munns CF, Pruijs JE, Sillence D, Terhal PA, Pryce K, Brown MA, Zankl A, Thomas G, Duncan EL. Lazarus S, et al. Among authors: zankl a. BMC Musculoskelet Disord. 2014 Mar 27;15:107. doi: 10.1186/1471-2474-15-107. BMC Musculoskelet Disord. 2014. PMID: 24674092 Free PMC article.
Initiating an undiagnosed diseases program in the Western Australian public health system.
Baynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Schofield L, Helmholz P, Palmer R, Kung S, Walker CE, Molster C, Lewis B, Mina K, Beilby J, Pathak G, Poulton C, Groza T, Zankl A, Roscioli T, Dinger ME, Mattick JS, Gahl W, Groft S, Tifft C, Taruscio D, Lasko P, Kosaki K, Wilhelm H, Melegh B, Carapetis J, Jana S, Chaney G, Johns A, Owen PW, Daly F, Weeramanthri T, Dawkins H, Goldblatt J. Baynam G, et al. Among authors: zankl a. Orphanet J Rare Dis. 2017 May 3;12(1):83. doi: 10.1186/s13023-017-0619-z. Orphanet J Rare Dis. 2017. PMID: 28468665 Free PMC article.
114 results