Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Efron, D, Delatycki, MB, de Silva, MG, Langbein, A, Slaghuis, W, Larson, A, Dahl, H-HM, Forrest, SM.
A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.
Journal of Medical Genetics
40(2)
:
e15
2003
view publication
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Mottram, PM, Gelman, JS, Donelan, L, Delatycki, M, Moir, S, Peverill, RE.
Tissue doppler assessment of systolic and diastolic function in freidreichs ataxia.
Heart Lung and Circulation
12(2)
:
a63
2003
view publication
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Lower, KM, Turner, G, Kerr, BA, Mathews, KD, Shaw, MA, Gedeon, ÁK, Schelley, S, Hoyme, HE, White, SM, Delatycki, MB, et al.
Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome.
Nature Genetics
32(4)
:
661 -665
2002
view publication
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Sitte, K, Zaibak, F, Delatycki, MB, Ioannou, PA.
Normal levels of soluble transferrin receptor in Friedreich ataxia.
Clinical Genetics
62(3)
:
250 -251
2002
view publication
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Gebhardt, DOE.
Sperm donor suffers years later from inherited disease.
Journal of Medical Ethics
28(4)
:
213
2002
view publication
