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Issue Date
Title
Author(s)
2019
GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in Cameroon
Tingang Wonkam, E.
;
Chimusa, E.
;
Noubiap, J.J.
;
Adadey, S.M.
;
F Fokouo, J.V.
;
Wonkam, A.
2007
SCN2A mutations and benign familial neonatal-infantile seizures: The phenotypic spectrum
Herlenius, E.
;
Heron, S.
;
Grinton, B.
;
Keay, D.
;
Scheffer, I.
;
Mulley, J.
;
Berkovic, S.
1995
FRAXE and mental retardation
Mulley, J.
;
Yu, S.
;
Loesch, D.
;
Hay, D.
;
Donnelly, A.
;
Gedeon, A.
;
Carbonell, P.
;
Lopez, I.
;
Glover, G.
;
Garbarron, I.
;
Yu, P.
;
Baker, E.
;
Haan, E.
;
Hockey, A.
;
Knight, S.
;
Daview, K.
;
Richards, R.
;
Sutherland, G.
2004
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus
Dudding, T.
;
Friend, K.
;
Schofield, P.
;
Lee, S.
;
Wilkinson, I.
;
Richards, R.
2002
X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARX
Scheffer, I.
;
Wallace, R.
;
Phillips, F.
;
Hewson, P.
;
Reardon, K.
;
Parasivam, G.
;
Stromme, P.
;
Berkovic, S.
;
Gecz, J.
;
Mulley, J.
Discover
Author
3
Mulley, J.
2
Berkovic, S.
2
Richards, R.
2
Scheffer, I.
1
Adadey, S.M.
1
Baker, E.
1
Carbonell, P.
1
Chimusa, E.
1
Daview, K.
1
Donnelly, A.
.
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Genetic Carrier Screening
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2
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Nerve Tissue Proteins
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2010 - 2019
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2000 - 2009
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1995 - 1999