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Results 11-20 of 64 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
1996
Clinicopathologic features of congenital aneurysms of the great vessels
Ades, L.
;
Knight, W.
;
Byard, R.
;
Bateman, J.
;
Esquivel, J.
;
Mee, R.
;
Haan, E.
;
Milewicz, D.
1995
Improving diagnosis of Huntington's disease by analysis of an intragenic trinucleotide repeat expansion
Firgaira, F.
;
Turner, D.
;
Haan, E.
;
Suthers, G.
1995
The sensitivity of ultrasound and serum alpha-fetoprotein in population-based antenatal screening for neural tube defects, South Australia 1986-1991
Chan, A.
;
Robertson, E.
;
Haan, E.
;
Ranieri, E.
;
Keane, R.
2002
The risk of mortality or cerebral palsy in twins: A collaborative population-based study
Scher, A.
;
Petterson, B.
;
Blair, E.
;
Ellenberg, J.
;
Grether, J.
;
Haan, E.
;
Reddihough, D.
;
Yeargin-Allsopp, M.
;
Nelson, K.
1996
Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome
Ades, L.
;
Haan, E.
;
Colley, A.
;
Richards, R.
2006
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited
Ades, L.
;
Sullivan, K.
;
Biggin, A.
;
Haan, E.
;
Brett, M.
;
Holman, K.
;
Dixon, J.
;
Robertson, S.
;
Holmes, A.
;
Rogers, J.
;
Bennetts, B.
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.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
1997
Mutation detection in FGFR2 craniosynostosis syndromes
Hollway, G.
;
Suthers, G.
;
Haan, E.
;
Thompson, E.
;
David, D.
;
Gecz, J.
;
Mulley, J.
Discover
Author
11
Gecz, J.
8
Ades, L.
8
Chan, A.
6
et al.
5
Keane, R.
5
Sutherland, G.
4
Hollway, G.
4
Suthers, G.
4
Thompson, E.
3
Baker, E.
.
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Subject
50
Female
41
Male
25
Adult
18
Child
15
Pedigree
15
Syndrome
13
Abnormalities, Multiple
13
Child, Preschool
13
Mutation
13
Pregnancy
.
next >
Date issued
13
2010 - 2016
23
2000 - 2009
28
1995 - 1999