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Results 91-100 of 105 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2006
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient
Crawford, J.
;
Lower, K.
;
Hennekam, R.
;
Van Esch, H.
;
Megarbane, A.
;
Lynch, S.
;
Turner, G.
;
Gecz, J.
2006
Effects of transforming growth factor-beta and formula feeding on systemic immune responses to dietary beta-lactoglobulin in allergy-prone rats
Penttila, I.
2006
Intra-articular enzyme administration for joint disease in feline mucopolysaccharidosis VI: Enzyme dose and interval
Auclair, D.
;
Hein, L.
;
Hopwood, J.
;
Byers, S.
2006
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome
von werkhoven, M.
;
Thorburn, D.
;
Gedeon, A.
;
Pitt, J.
2006
Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA
Derrick Roberts, A.
;
Thomas, B.
;
Wilkinson, A.
;
Fletcher, J.
;
Byers, S.
2006
Immunochemistry of lysosomal storage disorders
Parkinson-Lawrence, E.
;
Fuller, M.
;
Hopwood, J.
;
Meikle, P.
;
Brooks, D.
2006
Gene therapy for cystic fibrosis airway disease - Is clinical success imminent?
Anson, D.
;
Smith, G.
;
Parsons, D.
2006
Expression of bone morphogenic proteins and receptors at the injured growth plate cartilage in young rats
Ngo, T.
;
Scherer, M.
;
Zhou, F.
;
Foster, B.
;
Xian, C.
2006
delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha 4 beta 2 delta GABA(A) receptors
Feng, H.
;
Kang, J.
;
Song, L.
;
Dibbens, L.
;
Mulley, J.
;
Macdonald, R.
2006
Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples
Dean, C.
;
Bockmann, M.
;
Hopwood, J.
;
Brooks, D.
;
Meikle, P.
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Author
12
Hopwood, J.
6
Gecz, J.
6
Meikle, P.
5
Brooks, D.
5
Gold, M.
5
Hodge, G.
4
Cowin, A.
4
Fuller, M.
4
Hirte, C.
4
Makrides, M.
.
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39
Humans
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Female
19
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16
Animals
13
Child
8
Adolescent
7
Child, Preschool
7
Mice
7
Mutation
6
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