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Results 1-10 of 10 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
1997
High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn Syndrome
Fang, Y.
;
Bain, S.
;
Haan, E.
;
Eyre, H.
;
MacDonald, M.
;
Wright, T.
;
Altherr, M.
;
Riess, O.
;
Sutherland, G.
;
Callen, D.
1996
Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome
Ades, L.
;
Haan, E.
;
Colley, A.
;
Richards, R.
1995
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome
Ades, L.
;
Morris, L.
;
Power, R.
;
Wilson, M.
;
Haan, E.
;
Bateman, J.
;
Milewicz, D.
;
Sillence, D.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
1998
Autosomal dominant Klippel-Feil anomaly with cleft palate
Thompson, E.
;
Haan, E.
;
Sheffield, L.
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.
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.
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.
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
3
Ades, L.
2
Russo, R.
1
Altherr, M.
1
Amaral, D.
1
Aspinwall, R.
1
Bain, S.
1
Baker, E.
1
Bateman, J.
1
Bennett, E.
1
Bernier, R.
.
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Subject
9
Male
8
Child
6
Adult
5
Syndrome
4
Adolescent
3
Intellectual Disability
3
Middle Aged
2
Abnormalities, Multiple
2
Aged
2
Cerebral Palsy
.
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Date issued
2
2010 - 2016
3
2000 - 2009
5
1995 - 1999