-
Paznekas, WA, Karczeski, B, Vermeer, S, Lowry, RB, Delatycki, M, Laurence, F, Koivisto, PA, Van Maldergem, L, Boyadjiev, SA, Bodurtha, JN, et al.
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype..
Hum Mutat
30(5)
:
724 -733
2009
view publication
-
Delatycki, MB.
Evaluating the progression of Friedreich ataxia and its treatment..
J Neurol
256 Suppl 1:
36 -41
2009
view publication
-
Taylor, JM, Wu, R-M, Lin, C-H, Delatycki, MB, Lockhart, PJ.
Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population..
Parkinsonism Relat Disord
15(2)
:
149 -152
2009
view publication
-
Bruno, DL, Ganesamoorthy, D, Schoumans, J, Bankier, A, Coman, D, Delatycki, M, Gardner, RJM, Hunter, M, James, PA, Kannu, P, et al.
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice..
J Med Genet
46(2)
:
123 -131
2009
view publication
-
Taylor, JM, Delatycki, MB, Lockhart, PJ.
Identification and validation of control cell lines for accurate parkin dosage analysis..
J Neurosci Methods
176(2)
:
68 -71
2009
view publication