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Issue Date
Title
Author(s)
2011
De novo SCN1A mutations in migrating partial seizures of infancy
Carranza Rojo, D.
;
Hamiwka, L.
;
McMahon, J.
;
Dibbens, L.
;
Arsov, T.
;
Suls, A.
;
Stodberg, T.
;
Kelley, K.
;
Wirrell, E.
;
Appleton, B.
;
Mackay, M.
;
Freeman, J.
;
Yendle, S.
;
Berkovic, S.
;
Bienvenu, T.
;
De Jonghe, P.
;
Thorburn, D.
;
Mulley, J.
;
Mefford, H.
;
Scheffer, I.
1998
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes
Crawley, A.
;
Yogalingam, G.
;
Muller, V.
;
Hopwood, J.
2014
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth
Homan, C.
;
Kumar, R.
;
Nguyen, L.
;
Haan, E.
;
Raymond, F.
;
Abidi, F.
;
Raynaud, M.
;
Schwartz, C.
;
Wood, S.
;
Gecz, J.
;
Jolly, L.
1998
Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies
Bunge, S.
;
Clements, P.
;
Byers, S.
;
Kleijer, W.
;
Brooks, D.
;
Hopwood, J.
2014
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine
Milligan, C.
;
Li, M.
;
Gazina, E.
;
Heron, S.
;
Nair, U.
;
Trager, C.
;
Reid, C.
;
Venkat, A.
;
Younkin, D.
;
Dlugos, D.
;
Petrovski, S.
;
Goldstein, D.
;
Dibbens, L.
;
Scheffer, I.
;
Berkovic, S.
;
Petrou, S.
2013
CCDC22 deficiency in humans blunts activation of proinfammatory NF-KappaB signaling
Starokadomskyy, P.
;
Gluck, N.
;
Li, H.
;
Chen, B.
;
Wallis, M.
;
Maine, G.
;
Mao, X.
;
Zaidi, I.
;
Hein, M.
;
McDonald, F.
;
Lenzner, S.
;
Zecha, A.
;
Ropers, H.
;
Kuss, A.
;
McGaughran, J.
;
Gecz, J.
;
Burstein, E.
2010
Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registry
Walsh, M.
;
Buchanan, D.
;
Cummings, M.
;
Pearson, S.
;
Arnold, S.
;
Clendenning, M.
;
Walters, R.
;
McKeone, D.
;
Spurdle, A.
;
Hopper, J.
;
Jenkins, M.
;
Phillips, K.
;
Suthers, G.
;
George, J.
;
Goldblatt, J.
;
Muir, A.
;
Tucker, K.
;
Pelzer, E.
;
Gattas, M.
;
Woodall, S.
;
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.
2004
Mutations of the mitochondrial ND1 gene as a cause of MELAS
Kirby, D.
;
McFarland, R.
;
Ohtake, A.
;
Dunning, C.
;
Ryan, M.
;
Wilson, C.
;
Ketteridge, D.
;
Turnbull, D.
;
Thorburn, D.
;
Taylor, R.
2005
Decreased androgen receptor levels and receptor function in breast cancer contribute to the failure of response to medroxyprogesterone acetate
Buchanan, G.
;
Birrell, S.
;
Peters, A.
;
Bianco-Miotto, T.
;
Ramsay, K.
;
Cops, E.
;
Yang, M.
;
Harris, J.
;
Simila, H.
;
Moore, N.
;
Bentel, J.
;
Ricciardelli, C.
;
Horsfall, D.
;
Butler, L.
;
Tilley, W.
Discover
Author
48
Gecz, J.
30
Hopwood, J.
27
et al.
14
Haan, E.
14
Scheffer, I.
13
Berkovic, S.
10
Dibbens, L.
10
Mulley, J.
9
Brooks, D.
9
Weber, B.
.
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Subject
142
Humans
86
Male
83
Female
54
Animals
37
Adult
36
Pedigree
35
Phenotype
33
Child
29
Molecular Sequence Data
27
Child, Preschool
.
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