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Morgan, A, Braden, R, Wong, MMK, Colin, E, Amor, D, Liégeois, F, Srivastava, S, Vogel, A, Bizaoui, V, Ranguin, K, et al.
Speech and language deficits are central to SETBP1 haploinsufficiency disorder..
Eur J Hum Genet
29(8)
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1216 -1225
2021
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Peris, M, Reid, SM, Dobie, S, Bonacquisto, L, Shepherd, DA, Amor, DJ.
Second trimester maternal serum biomarkers and the risk of cerebral palsy..
Prenat Diagn
41(9)
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1101 -1110
2021
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Downie, L, Amor, DJ, Halliday, J, Lewis, S, Martyn, M, Goranitis, I.
Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness Analysis..
Laryngoscope
131(7)
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E2371 -E2377
2021
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Alsharhan, H, He, M, Edmondson, AC, Daniel, EJP, Chen, J, Donald, T, Bakhtiari, S, Amor, DJ, Jones, EA, Vassallo, G, et al.
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes..
J Inherit Metab Dis
44(4)
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1001 -1012
2021
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Chowdhury, F, Wang, L, Al-Raqad, M, Amor, DJ, Baxová, A, Bendová, Š, Biamino, E, Brusco, A, Caluseriu, O, Cox, NJ, et al.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities..
Genet Med
23(7)
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1234 -1245
2021
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