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A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype..
J Med Genet
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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)
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2003
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Lower, KM, Turner, G, Kerr, BA, Mathews, KD, Shaw, MA, Gedeon, AK, Schelley, S, Hoyme, HE, White, SM, Delatycki, MB, et al.
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome..
Nat Genet
32(4)
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Normal levels of soluble transferrin receptor in Friedreich ataxia..
Clin Genet
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Gebhardt, DOE.
Sperm donor suffers years later from inherited disease..
J Med Ethics
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