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Results 1-10 of 16 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
1998
Coexistence of Gaucher-Disease Type 1 and Joubert-Syndrome
Van Royen-Kerkhof, A.
;
Pollthe, B.
;
Kleijer, W.
;
van Diggelen, O.
;
Aerts, J.
;
Hopwood, J.
;
Beemer, F.
2001
Glucose-regulated insulin expression in diabetic rats
Barry, S.
;
Ramesh, N.
;
Lejnieks, D.
;
Simonson, W.
;
Kemper, L.
;
Lernmark, A.
;
Osborne, W.
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.
1998
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype
Yamada, N.
;
Fukuda, S.
;
Tomatsu, S.
;
Muller, V.
;
Hopwood, J.
;
Nelson, J.
;
Kato, Z.
;
Yamagishi, A.
;
Sukegawa, K.
;
Kondo, M.
;
Orii, T.
2009
In Vitro Differentiation of Human Calvarial Suture Derived Cells With and Without Dexamethasione Does Not Induce In Vivo-Like Expression
Coussens, A.
;
Hughes, I.
;
Morris, C.
;
Powell, B.
;
Anderson, P.
2016
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hu, H.
;
Haas, S.
;
Chelly, J.
;
Van Esch, H.
;
Raynaud, M.
;
De Brouwer, A.
;
Weinert, S.
;
Froyen, G.
;
Frints, S.
;
Laumonnier, F.
;
Zemojtel, T.
;
Love, M.
;
Richard, H.
;
Emde, A.
;
Bienek, M.
;
Jensen, C.
;
Hambrock, M.
;
Fischer, U.
;
Langnick, C.
;
Feldkamp, M.
;
et al.
2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Jolly, L.
;
Nguyen, L.
;
Domingo, D.
;
Sun, Y.
;
Barry, S.
;
Hancarova, M.
;
Plevova, P.
;
Vlckova, M.
;
Havlovicova, M.
;
Kalscheuer, V.
;
Graziano, C.
;
Pippucci, T.
;
Bonora, E.
;
Sedlacek, Z.
;
Gecz, J.
2007
Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis
Anderson, P.
;
Cox, T.
;
Roscioli, T.
;
Elakis, G.
;
Smithers, L.
;
David, D.
;
Powell, B.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
1997
FMR2 expression in families with FRAXE mental retardation
Gecz, J.
;
Oostra, B.
;
Hockey, A.
;
Carbonell, P.
;
Turner, G.
;
Haan, E.
;
Sutherland, G.
;
Mulley, J.
Discover
Author
3
Anderson, P.
3
Gecz, J.
3
Hopwood, J.
3
Powell, B.
2
Barry, S.
2
Coussens, A.
2
Haan, E.
2
Hughes, I.
2
Morris, C.
1
Ades, L.
.
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Subject
14
Humans
9
Female
7
Animals
5
Mutation
4
Brain
4
Fibroblasts
4
Infant
4
RNA, Messenger
3
Adult
3
Base Sequence
.
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Date issued
3
2010 - 2016
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2000 - 2009
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1996 - 1999