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Issue Date
Title
Author(s)
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
1997
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
D'Adamo, P.
;
Fassone, L.
;
Gedeon, A.
;
Janssen, E.
;
Bione, S.
;
Bolhuis, P.
;
Barth, P.
;
Wilson, M.
;
Haan, E.
;
Orstavik, H.
;
Patton, M.
;
Green, A.
;
Zammarchi, E.
;
Donati, M.
;
Toniolo, D.
1995
A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
Laing, N.
;
Wilton, S.
;
Akkari, P.
;
Dorosz, S.
;
Boundy, K.
;
Kneebone, C.
;
Blumbergs, P.
;
White, S.
;
Watkins, H.
;
Love, D.
;
Haan, E.
2003
X-linked myotubular myopathy in a family with three adult survivors
Yu, S.
;
Manson, J.
;
White, S.
;
Bourne, A.
;
Waddy, H.
;
Davis, M.
;
Haan, E.
Discover
Author
2
White, S.
1
Afawi, Z.
1
Akkari, P.
1
Barth, P.
1
Bassan, H.
1
Bione, S.
1
Blumbergs, P.
1
Bolhuis, P.
1
Boundy, K.
1
Bourne, A.
.
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Subject
4
Humans
3
Molecular Sequence Data
2
Amino Acid Sequence
2
Animals
2
Female
2
Infant
2
Point Mutation
1
Abnormalities, Multiple
1
Acyltransferases
1
Age of Onset
.
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Date issued
1
2010 - 2012
1
2000 - 2009
2
1995 - 1999