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Results 21-27 of 27 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2006
ZNF674: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation
Lugtenberg, D.
;
Yntema, H.
;
Banning, M.
;
Oudakker, A.
;
Firth, H.
;
Willatt, L.
;
Raynaud, M.
;
Kleefstra, T.
;
Fryns, J.
;
Ropers, H.
;
Chelly, J.
;
Moraine, C.
;
Gecz, J.
;
van Reeuwijk, J.
;
Nabuurs, S.
;
de Vries, B.
;
Hamel, B.
;
de Brouwer, A.
;
van Bokhoven, H.
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.
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.
2002
Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B
Wallace, R.
;
Scheffer, I.
;
Parasivam, G.
;
Barnett, S.
;
Wallace, G.
;
Sutherland, G.
;
Berkovic, S.
;
Mulley, J.
2001
Variable presentation of X-linked adrenal hypoplasia congenita
Wiltshire, E.
;
Couper, J.
;
Rodda, C.
;
Jameson, J.
;
Acherman, J.
2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
Frints, S.G.M.
;
Ozanturk, A.
;
RodrÃguez Criado, G.
;
Grasshoff, U.
;
de Hoon, B.
;
Field, M.
;
Manouvrier-Hanu, S.
;
E Hickey, S.
;
Kammoun, M.
;
Gripp, K.W.
;
Bauer, C.
;
Schroeder, C.
;
Toutain, A.
;
Mihalic Mosher, T.
;
Kelly, B.J.
;
White, P.
;
Dufke, A.
;
Rentmeester, E.
;
Moon, S.
;
Koboldt, D.C.
;
et al.
2001
Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients
Perkins, K.
;
Muller, V.
;
Weber, B.
;
Hopwood, J.
Discover
Author
10
et al.
8
Gecz, J.
5
Mulley, J.
5
Scheffer, I.
4
Berkovic, S.
4
Hopwood, J.
3
Dibbens, L.
3
Fletcher, J.
3
Haan, E.
3
Thorburn, D.
.
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Subject
27
Humans
21
Male
20
Child
16
Female
14
Infant
12
Adolescent
12
Adult
9
Pedigree
8
Phenotype
7
Infant, Newborn
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Date issued
8
2010 - 2018
16
2000 - 2009
3
1997 - 1999