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Results 11-15 of 15 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2003
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene
Davis, M.
;
Haan, E.
;
Jungbluth, H.
;
Sewry, C.
;
North, K.
;
Muntoni, F.
;
Kuntzer, T.
;
Lamont, P.
;
Bankier, A.
;
Tomlinson, P.
;
Sanchez, A.
;
Walsh, P.
;
Nagarajan, L.
;
Oley, C.
;
Colley, A.
;
Gedeon, A.
;
Quinlivan, R.
;
Dixon, J.
;
James, D.
;
Muller, C.
;
et al.
2005
The Hunter-McAlpine syndrome results from duplication 5q35-qter
Hunter, A.
;
DuPont, B.
;
McLaughlin, M.
;
Hinton, L.
;
Baker, E.
;
Ades, L.
;
Haan, E.
;
Schwartz, C.
2011
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I
He, H.
;
Liyanarachchi, S.
;
Akagi, K.
;
Nagy, R.
;
Li, J.
;
Dietrich, R.
;
Li, W.
;
Sebastian, N.
;
Wen, B.
;
Xin, B.
;
Singh, J.
;
Yan, P.
;
Alder, H.
;
Haan, E.
;
Wieczorek, D.
;
Albrecht, B.
;
Puffenberger, E.
;
Wang, H.
;
Westman, J.
;
Padgett, R.
;
et al.
2010
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Hynes, K.
;
Tarpey, P.
;
Dibbens, L.
;
Bayly, M.
;
Berkovic, S.
;
Smith, R.
;
Al Raisi, Z.
;
Turner, S.
;
Brown, N.
;
Desai, T.
;
Haan, E.
;
Turner, G.
;
Christodoulou, J.
;
Leonard, H.
;
Gill, D.
;
Stratton, M.
;
Gecz, J.
;
Scheffer, I.
2006
Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource
Mann, G.
;
Thorne, H.
;
Balleine, R.
;
Butow, P.
;
Clarke, C.
;
Edkins, E.
;
Evans, G.
;
Fereday, S.
;
Haan, E.
;
Gattas, M.
;
Giles, G.
;
Goldblatt, J.
;
Hopper, J.
;
Kirk, J.
;
Leary, J.
;
Lindeman, G.
;
Niedermayr, E.
;
Phillips, K.
;
Picken, S.
;
Pupo, G.
;
et al.
Discover
Author
5
et al.
3
Gecz, J.
2
Ades, L.
2
Davis, M.
2
Gedeon, A.
2
Goldblatt, J.
2
Laing, N.
2
White, S.
1
Afawi, Z.
1
Akagi, K.
.
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Subject
15
Humans
11
Female
11
Male
6
Adult
5
Base Sequence
5
Child
5
Molecular Sequence Data
5
Syndrome
4
Abnormalities, Multiple
4
Child, Preschool
.
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Date issued
4
2010 - 2012
6
2000 - 2009
5
1995 - 1999