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Results 21-30 of 41 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
1997
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene
Sampson, J.
;
Maheshwar, M.
;
Aspinwall, R.
;
Thompson, P.
;
Cheadle, J.
;
Ravine, D.
;
Roy, S.
;
Haan, E.
;
Bernstein, J.
;
Harris, P.
2009
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2
Ghalamkarpour, A.
;
Debauche, C.
;
Haan, E.
;
Van Regemorter, N.
;
Snzajer, Y.
;
Thomas, D.
;
Revencu, N.
;
Gillerot, Y.
;
Boon, L.
;
Vikkula, M.
2008
Self-Esteem, Self-Concept, and Quality of Life in Children with Hemiplegic Cerebral Palsy
Russo, R.
;
Goodwin, E.
;
Miller, M.
;
Haan, E.
;
Connell, T.
;
Crotty, M.
2010
CP or not CP? A review of diagnoses in a cerebral palsy register
Zarrinkalam, R.
;
Russo, R.
;
Gibson, C.
;
van Essen, P.
;
Peek, A.
;
Haan, E.
2012
New mutations and sporadic intellectual disability
Gecz, J.
;
Haan, E.
1995
A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
Laing, N.
;
Wilton, S.
;
Akkari, P.
;
Dorosz, S.
;
Boundy, K.
;
Kneebone, C.
;
Blumbergs, P.
;
White, S.
;
Watkins, H.
;
Love, D.
;
Haan, E.
2003
X-linked myotubular myopathy in a family with three adult survivors
Yu, S.
;
Manson, J.
;
White, S.
;
Bourne, A.
;
Waddy, H.
;
Davis, M.
;
Haan, E.
1998
Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene
Gibson, M.
;
Ellis, S.
;
Ades, L.
;
Haan, E.
;
Cleary, E.
2005
Health professionals' knowledge, practice and opinions about fetal alcohol syndrome and alcohol consumption in pregnancy
Payne, J.
;
Elliott, E.
;
D'Antoine, H.
;
O'Leary, C.
;
Mahony, A.
;
Haan, E.
;
Bower, C.
2005
Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature review
Yu, S.
;
Baker, E.
;
Hinton, L.
;
Eyre, H.
;
Waters, W.
;
Higgins, S.
;
Sutherland, G.
;
Haan, E.
Discover
Author
7
Gecz, J.
6
Ades, L.
4
et al.
4
Sutherland, G.
3
Baker, E.
3
Russo, R.
3
Thompson, E.
3
Yu, S.
2
Chan, A.
2
Crotty, M.
.
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Subject
41
Humans
33
Female
16
Child
15
Adult
12
Syndrome
11
Pedigree
10
Abnormalities, Multiple
10
Child, Preschool
10
Mutation
9
Infant
.
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Date issued
9
2010 - 2016
15
2000 - 2009
17
1995 - 1999