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Li, L, Menezes, MP, Smith, M, Forbes, R, Züchner, S, Burgess, A, Woodcock, IR, Delatycki, MB, Yiu, EM.
Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature..
Neuromuscul Disord
37:
29 -35
2024
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Wang, T, Scuffham, P, Byrnes, J, Delatycki, MB, Downes, M.
An Overview of Reproductive Carrier Screening Panels for Autosomal Recessive and/or X-Linked Conditions: How Much Do We Know?.
Obstetrical & Gynecological Survey
79(4)
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198 -200
2024
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Tiller, J, Bakshi, A, Dowling, G, Keogh, L, McInerney-Leo, A, Barlow-Stewart, K, Boughtwood, T, Gleeson, P, Delatycki, MB, Winship, I, et al.
Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing..
Eur J Hum Genet
32(3)
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286 -294
2024
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Tiller, J, Bakshi, A, Dowling, G, Keogh, L, McInerney-Leo, A, Barlow-Stewart, K, Boughtwood, T, Gleeson, P, Delatycki, MB, Winship, I, et al.
Correction: Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing..
Eur J Hum Genet
32(3)
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365
2024
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Fernandez, L, Corben, LA, Bilal, H, Delatycki, MB, Egan, GF, Harding, IH.
Free-Water Imaging in Friedreich Ataxia Using Multi-Compartment Models..
Mov Disord
39(2)
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370 -379
2024
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