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Results 11-18 of 18 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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.
2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Haan, E.
;
Gecz, J.
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
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.
1997
Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy
Smith, A.
;
Marks, R.
;
Haan, E.
;
Dixon, J.
;
Trent, 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.
2010
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Hynes, K.
;
Tarpey, P.
;
Dibbens, L.
;
Bayly, M.
;
Berkovic, S.
;
Smith, R.
;
Al Raisi, Z.
;
Turner, S.
;
Brown, N.
;
Desai, T.
;
Haan, E.
;
Turner, G.
;
Christodoulou, J.
;
Leonard, H.
;
Gill, D.
;
Stratton, M.
;
Gecz, J.
;
Scheffer, I.
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.
Discover
Author
5
Ades, L.
3
Gecz, J.
3
Russo, R.
2
Crotty, M.
2
Dixon, J.
2
et al.
2
Miller, M.
2
Scheffer, I.
2
Thompson, E.
1
Al Raisi, Z.
.
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16
Male
14
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11
Adult
9
Child, Preschool
7
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6
Adolescent
5
Infant
5
Mutation
5
Pedigree
4
Abnormalities, Multiple
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Date issued
4
2010 - 2016
7
2000 - 2009
7
1996 - 1999