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Results 1-9 of 9 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2004
A combined 13CO2/H2 breath test can be used to assess starch digestion and fermentation in humans
Symonds, E.
;
Kritas, S.
;
Omari, T.
;
Butler, R.
2004
Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families
Marini, C.
;
Scheffer, I.
;
Crossland, K.
;
Grinton, B.
;
Phillips, F.
;
McMahon, J.
;
Turner, S.
;
Dean, J.
;
Kivity, S.
;
Mazarib, A.
;
Neufeld, M.
;
Korczyn, A.
;
Harkin, L.
;
Dibbens, L.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
2004
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.
Partington, M.
;
Turner, G.
;
Boyle, J.
;
Gecz, J.
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
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
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
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
Immunoquantification of a-galactosidase: Evaluation for the diagnosis of Fabry Disease
Fuller, M.
;
Lovejoy, M.
;
Brooks, D.
;
Harkin, M.
;
Hopwood, J.
;
Meikle, P.
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
2
Berkovic, S.
2
Gecz, J.
2
Harkin, L.
2
Korczyn, A.
2
Mazarib, A.
2
McMahon, J.
2
Mulley, J.
2
Neufeld, M.
2
Omari, T.
2
Scheffer, I.
.
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Subject
9
Humans
7
Male
6
Female
4
Pedigree
3
Adolescent
3
Child
3
Middle Aged
2
Age of Onset
2
Aged
2
Chromosomes, Human, X
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