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Page 1
Progress in managing children with achondroplasia.
Taylor-Miller T, Savarirayan R. Taylor-Miller T, et al. Expert Rev Endocrinol Metab. 2024 Nov;19(6):479-486. doi: 10.1080/17446651.2024.2390416. Epub 2024 Aug 12. Expert Rev Endocrinol Metab. 2024. PMID: 39132812 Review.
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Malbos M, Wakeling E, Gautier T, Boespflug-Tanguy O, Busby L, Taylor-Miller T, Dudoignon B, Bokov P, Govin J, Grisval M, Rega A, Mourot De Rougemont MG, Aubriot-Lorton MH, Darmency V, Bensignor C, Houzel A, Huet F, Denommé-Pichon AS, Delanne J, Tran Mau-Them F, Bruel AL, Safraou H, Nambot S, Garde A, Philippe C, Duffourd Y, Vitobello A, Faivre L, Thauvin-Robinet C. Malbos M, et al. Among authors: taylor miller t. Clin Genet. 2024 May;105(5):555-560. doi: 10.1111/cge.14485. Epub 2024 Jan 29. Clin Genet. 2024. PMID: 38287449
Evaluating Eating Behaviour, Energy Homeostasis, and Obesity in Childhood-Onset Craniopharyngioma: A Feasibility Study.
Hinton EC, Lithander FE, Elsworth RL, Hawton K, Narayan K, Szymkowiak S, Bedford HL, Naeem N, Elson R, Taylor-Miller T, Hamilton-Shield JP, Crowne EC. Hinton EC, et al. Among authors: taylor miller t. Horm Res Paediatr. 2024;97(1):80-93. doi: 10.1159/000530863. Epub 2023 May 17. Horm Res Paediatr. 2024. PMID: 37231854 Free PMC article.
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR; Undiagnosed Diseases Network; Westerfield M, De Matteis MA, Lee B. Marom R, et al. Among authors: taylor miller t. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26. Am J Hum Genet. 2021. PMID: 34450031 Free PMC article.
Extreme hypercalcaemia due to accidental vitamin D intoxication.
Zhou L, Taylor-Miller T, Zacharin M, Efron D. Zhou L, et al. Among authors: taylor miller t. J Paediatr Child Health. 2019 Jan;55(1):104-106. doi: 10.1111/jpc.14127. Epub 2018 Jul 19. J Paediatr Child Health. 2019. PMID: 30024081 No abstract available.
Growth disorders in adolescents.
Taylor-Miller T, Simm PJ. Taylor-Miller T, et al. Aust Fam Physician. 2017 Dec;46(12):913-917. Aust Fam Physician. 2017. PMID: 29464228 Free article. Review.
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