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Results 1-10 of 15 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2008
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Dibbens, L.
;
Tarpey, P.
;
Hynes, K.
;
Bayly, M.
;
Scheffer, I.
;
Smith, R.
;
Bomar, J.
;
Sutton, E.
;
Vandeleur, L.
;
Shoubridge, C.
;
Edkins, S.
;
Turner, S.
;
Stevens, C.
;
O'Meara, S.
;
Tofts, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Halliday, K.
;
Jones, D.
;
et al.
1996
Clinicopathologic features of congenital aneurysms of the great vessels
Ades, L.
;
Knight, W.
;
Byard, R.
;
Bateman, J.
;
Esquivel, J.
;
Mee, R.
;
Haan, E.
;
Milewicz, D.
2004
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy
Karageorgos, L.
;
Harmatz, P.
;
Simon, J.
;
Pollard, A.
;
Clements, P.
;
Brooks, D.
;
Hopwood, J.
2005
Correlation of acid a-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease
Umapathysivam, K.
;
Hopwood, J.
;
Meikle, P.
2004
Glycosaminoglycan degradation fragments in mucopolysaccharidosis I
Fuller, M.
;
Meikle, P.
;
Hopwood, J.
1995
In vivo delivery of human α-L-iduronidase in mice implanted with neo-organs
Salvetti, A.
;
Moullier, P.
;
Cornet, V.
;
Brooks, D.
;
Hopwood, J.
;
Danos, O.
;
Heard, J.M.
1996
Correction of Sanfilippo a Skin Fibroblasts By Retroviral Vector-Mediated Gene Transfer
Bielicki, J.
;
Hopwood, J.
;
Anson, D.
2005
Prediction of neuropathology in mucopolysaccharidosis I patients
Fuller, M.
;
Brooks, D.
;
Evangelista, M.
;
Hein, L.
;
Hopwood, J.
;
Meikle, P.
1998
Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity
Yogalingam, G.
;
Hopwood, J.
;
Crawley, A.
;
Anson, D.
2005
Immunoquantification of b-glucosidase: Diagnosis and prediction of severity in Gaucher disease
Fuller, M.
;
Lovejoy, M.
;
Hopwood, J.
;
Meikle, P.
Discover
Author
12
Hopwood, J.
7
Meikle, P.
6
Brooks, D.
3
Fuller, M.
3
Isaac, E.
3
Karageorgos, L.
2
Anson, D.
2
Ravenscroft, E.
2
Yogalingam, G.
1
Ades, L.
.
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Subject
13
Humans
8
Animals
8
Cells, Cultured
5
Cell Line
5
Cricetinae
4
CHO Cells
4
Female
4
Lysosomal Storage Diseases
3
Antigens, CD
3
Biological Transport
.
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Date issued
1
2010 - 2012
8
2000 - 2009
6
1995 - 1999