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Results 11-20 of 20 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Freude, K.
;
Hoffmann, K.
;
Jensen, L.
;
Delatycki, M.
;
des Portes, V.
;
Moser, B.
;
Hamel, B.
;
van Bokhoven, H.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
Gecz, J.
;
Lenzner, S.
;
Kalscheuer, V.
;
Ropers, H.
2004
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
Tarpey, P.
;
Parnau, J.
;
Blow, M.
;
Woffendin, H.
;
Bignell, G.
;
Cox, C.
;
Cox, J.
;
Davies, H.
;
Edkins, S.
;
Holden, S.
;
Korny, A.
;
Mallya, U.
;
Moon, J.
;
O'Meara, S.
;
Parker, A.
;
Stephens, P.
;
Stevens, C.
;
Teague, J.
;
Donnelly, A.
;
Mangelsdorf, M.
;
et al.
2004
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies
Dibbens, L.
;
Feng, H.
;
Richards, M.
;
Harkin, L.
;
Hodgson, B.
;
Scott, D.
;
Jenkins, M.
;
Petrou, S.
;
Sutherland, G.
;
Scheffer, I.
;
Berkovic, S.
;
Mcdonald, R.
;
Mulley, J.
2004
Nasopharyngeal pH monitoring in chronic sinusitis patients using a novel four channel probe
Wong, I.
;
Omari, T.
;
Myers, J.
;
Rees, G.
;
Nair, S.
;
Jamieson, G.
;
Wormald, P.
2004
Folic acid improves endothelial function in children and adolescents with type 1 diabetes
Pena Vargas, A.
;
Wiltshire, E.
;
Gent, R.
;
Hirte, C.
;
Couper, J.
2004
Paradoxical impact of body positioning on gastroesophageal reflux and gastric emptying in the premature neonate
Omari, T.
;
Rommel, N.
;
Staunton, E.
;
Lontis, R.
;
Goodchild, L.
;
Haslam, R.
;
Dent, J.
;
Davidson, G.
2004
Phenotypic variability: Clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemia
Morwood, K.
;
Bourne, H.
;
Philpot, R.
;
Gold, M.
;
Gillis, D.
;
Benson, E.
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.
2004
LGI1 mutations in temporal lobe epilepsies
Berkovic, S.
;
Izzillo, P.
;
McMahon, J.
;
Harkin, L.
;
McIntosh, A.
;
Phillips, H.
;
Briellmann, R.
;
Wallace, R.
;
Mazarib, A.
;
Neufeld, M.
;
Korczyn, A.
;
Scheffer, I.
;
Mulley, J.
2004
Pancreatic β-cell function and immune responses to insulin after administration of intranasal insulin to humans at risk for type 1 diabetes
Harrison, L.
;
Honeyman, B.
;
Steele, C.
;
Stone, N.
;
Sarugeri, E.
;
Bonifacio, E.
;
Couper, J.
;
Coleman, P.
Discover
Author
5
Gecz, J.
3
Berkovic, S.
3
Harkin, L.
3
Mulley, J.
3
Scheffer, I.
2
Couper, J.
2
Dibbens, L.
2
Hopwood, J.
2
Kirby, D.
2
Korczyn, A.
.
next >
Subject
17
Female
8
Pedigree
7
Adolescent
7
Adult
6
Child
5
Mental Retardation, X-Linked
5
Mutation
4
Child, Preschool
4
Middle Aged
3
Aged
.
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