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Results 11-20 of 20 (Search time: 0.006 seconds).
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Issue Date
Title
Author(s)
1999
X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation
Woffendin, H.
;
Jakins, T.
;
Jouet, M.
;
Stewart, H.
;
Landy, S.
;
Haan, E.
;
Harris, A.
;
Donnai, D.
;
Read, A.
;
Kenwrick, S.
1997
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
D'Adamo, P.
;
Fassone, L.
;
Gedeon, A.
;
Janssen, E.
;
Bione, S.
;
Bolhuis, P.
;
Barth, P.
;
Wilson, M.
;
Haan, E.
;
Orstavik, H.
;
Patton, M.
;
Green, A.
;
Zammarchi, E.
;
Donati, M.
;
Toniolo, D.
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.
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.
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.
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.
1998
The impact of rubella immunisation on the incidence of rubella, congenital rubella syndrome and rubella-related terminations of pregnancy in South Australia
Cheffins, T.
;
Chan, A.
;
Keane, R.
;
Haan, E.
;
Hall, R.
1997
Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy
Smith, A.
;
Marks, R.
;
Haan, E.
;
Dixon, J.
;
Trent, R.
1997
Perinatal risk factors for developmental dysplasia of the hip
Chan, A.
;
McCaul, K.
;
Cundy, P.
;
Haan, E.
;
Byron-Scott, R.
1995
FRAXE and mental retardation
Mulley, J.
;
Yu, S.
;
Loesch, D.
;
Hay, D.
;
Donnelly, A.
;
Gedeon, A.
;
Carbonell, P.
;
Lopez, I.
;
Glover, G.
;
Garbarron, I.
;
Yu, P.
;
Baker, E.
;
Haan, E.
;
Hockey, A.
;
Knight, S.
;
Daview, K.
;
Richards, R.
;
Sutherland, G.
Discover
Author
5
Mulley, J.
4
Ades, L.
4
Sutherland, G.
3
Gedeon, A.
2
Baker, E.
2
Carbonell, P.
2
Chan, A.
2
Donnelly, A.
2
Hockey, A.
2
Richards, R.
.
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Subject
20
Humans
18
Female
8
Adult
8
Child
6
Pedigree
5
Abnormalities, Multiple
5
Chromosome Mapping
5
Exons
5
Molecular Sequence Data
5
Syndrome
.
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Date issued
3
1999
5
1998
7
1997
3
1996
2
1995