Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
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NEJM 355:2132-2142, Brown,R.H.,et al, 2006
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Hum Mutat 21:569-576, Reiss,J. &Johnson,J.L., 2003
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Am J Dis Child 146:194-197, Jocelyn,L.J.&Casiro,O.G., 1992
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
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Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
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