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Marsh, APL, Yap, P, Tan, T, Pope, K, White, SM, Chong, B, Mcgillivray, G, Boys, A, Stephenson, SEM, Leventer, RJ, et al.
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
American Journal of Medical Genetics Part A
173(3)
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820 -823
2017
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Brna, PM, Harvey, AS, Leventer, RJ.
Hemispheric polymicrogyria and neonatal seizures: a potentially life‐threatening combination.
Epileptic Disorders
19(1)
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87 -93
2017
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Leventer, RJ, Scerri, T, Marsh, APL, Maixner, W, MacGregor, D, Harvey, AS, Delatycki, MB, Amor, DJ, Bahlo, M, Lockhart, PJ.
Investigating the role of somatic mutations in malformations of brain development.
Pathology
49:
s33
2017
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Coman, D, Fullston, T, Shoubridge, C, Leventer, R, Wong, F, Nazaretian, S, Simpson, I, Gecz, J, McGillivray, G.
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia.
Child Neurology Open
4:
2329048x17738625
2017
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Dobyns, WB, Leventer, RJ, Guerrini, R.
29 Malformations of Cortical Development.
218 -225
2017
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