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Amor, DJ.
Fragile X Syndrome and Premutation Disorders: New Developments and Treatments Edited by Randi J Hagerman and Paul J Hagerman. London: Mac Keith Press, 2020. £75.00 (Hardback), pp 176. ISBN: 9781911612377.
Developmental Medicine & Child Neurology
63(1)
:
119 -119
2021
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Amor, DJ, Chitty, LS, Van den Veyver, IB.
Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing..
Prenat Diagn
40(12)
:
1508 -1514
2020
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Kramer, I, Hooning, MJ, Mavaddat, N, Hauptmann, M, Keeman, R, Steyerberg, EW, Giardiello, D, Antoniou, AC, Pharoah, PDP, Canisius, S, et al.
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk..
Am J Hum Genet
107(5)
:
837 -848
2020
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Gjorgioski, S, Halliday, J, Riley, M, Amor, DJ, Delatycki, MB, Bankier, A.
Genetics and pediatric hospital admissions, 1985 to 2017..
Genet Med
22(11)
:
1777 -1785
2020
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Yaplito-Lee, J, Pai, G, Hardikar, W, Hong, KM, Pitt, J, Marum, J, Amor, DJ.
Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature..
JIMD Rep
56(1)
:
14 -19
2020
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