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Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis.
American Journal of Human Genetics
88(4)
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508 -515
2011
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Rosen, KM, Folker, JE, Murdoch, BE, Vogel, AP, Cahill, LM, Delatycki, MB, Corben, LA.
Measures of spectral change and their application to habitual, slow, and clear speaking modes.
International Journal of Speech-Language Pathology
13(2)
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165 -173
2011
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Holloway, TP, Rowley, SM, Delatycki, MB, Sarsero, JP.
Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia.
BioTechniques
50(3)
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182 -186
2011
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Akhlaghi, H, Corben, L, Georgiou-Karistianis, N, Bradshaw, J, Storey, E, Delatycki, MB, Egan, GF.
Superior Cerebellar Peduncle Atrophy in Friedreich’s Ataxia Correlates with Disease Symptoms.
The Cerebellum
10(1)
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81 -87
2011
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Folker, JE, Murdoch, BE, Cahill, LM, Delatycki, MB, Corben, LA, Vogel, AP.
Kinematic analysis of lingual movements during consonant productions in dysarthric speakers with Friedreich's ataxia: A case-by-case analysis.
Clinical Linguistics & Phonetics
25(1)
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66 -79
2011
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