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Results 31-40 of 41 (Search time: 0.005 seconds).
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Issue Date
Title
Author(s)
2005
The Hunter-McAlpine syndrome results from duplication 5q35-qter
Hunter, A.
;
DuPont, B.
;
McLaughlin, M.
;
Hinton, L.
;
Baker, E.
;
Ades, L.
;
Haan, E.
;
Schwartz, C.
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.
2011
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I
He, H.
;
Liyanarachchi, S.
;
Akagi, K.
;
Nagy, R.
;
Li, J.
;
Dietrich, R.
;
Li, W.
;
Sebastian, N.
;
Wen, B.
;
Xin, B.
;
Singh, J.
;
Yan, P.
;
Alder, H.
;
Haan, E.
;
Wieczorek, D.
;
Albrecht, B.
;
Puffenberger, E.
;
Wang, H.
;
Westman, J.
;
Padgett, R.
;
et al.
2014
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth
Homan, C.
;
Kumar, R.
;
Nguyen, L.
;
Haan, E.
;
Raymond, F.
;
Abidi, F.
;
Raynaud, M.
;
Schwartz, C.
;
Wood, S.
;
Gecz, J.
;
Jolly, L.
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.
2009
A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology
Talseth-Palmer, B.
;
Bowden, N.
;
Meldrum, C.
;
Nicholl, J.
;
Thompson, E.
;
Friend, K.
;
Liebelt, J.
;
Bratkovic, D.
;
Haan, E.
;
Yu, S.
;
Scott, R.
2009
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype
Spurlock, G.
;
Bennett, E.
;
Chuzhanova, N.
;
Thomas, N.
;
H-Ping, J.
;
Side, L.
;
Davies, S.
;
Haan, E.
;
Kerr, B.
;
Huson, S.
;
Upadhyaya, M.
2013
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients
Dobson-Stone, C.
;
Hallupp, M.
;
Loy, C.
;
Thompson, E.
;
Haan, E.
;
Sue, C.
;
Panegyres, P.
;
Razquin, C.
;
Seijo-Martinez, M.
;
Ramon, R.
;
Gascon, J.
;
Campdelacreu, J.
;
Schmoll, B.
;
Volk, A.
;
Brooks, W.
;
Schofield, P.
;
Pastor, P.
;
Kwok, J.
;
Wider, C.
2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3
Metsu, S.
;
Rooms, L.
;
Rainger, J.
;
Taylor, M.
;
Bengani, H.
;
Wilson, D.
;
Chilamakuri, C.
;
Morrison, H.
;
Vandeweyer, G.
;
Reyniers, E.
;
Douglas, E.
;
Thompson, G.
;
Haan, E.
;
Gecz, J.
;
FitzPatrick, D.
;
Kooy, R.
;
Pearson, C.
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