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Issue Date
Title
Author(s)
1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
Muenke, M.
;
Gripp, K.
;
McDonald-McGinn, D.
;
Gaudenz, K.
;
Whitaker, L.
;
Bartlett, S.
;
Markowitz, R.
;
Robin, N.
;
Nwokoro, N.
;
Mulvihill, J.
;
Losken, H.
;
Mulliken, J.
;
Guttmacher, A.
;
Wilroy, R.
;
Clarke, L.
;
Hollway, G.
;
Ades, L.
;
Haan, E.
;
Mulley, J.
;
Cohen, M.
;
et al.
2000
New mutations in MID1 provide support for loss of function as the cause of X-linked Optiz syndrome
Cox, T.
;
Allen, L.
;
Cox, L.
;
Hopwood, B.
;
Goodwin, B.
;
Haan, E.
;
Suthers, G.
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.
1999
Homozygotes for FRA16B are normal
Hocking, T.
;
Feichtinger, W.
;
Schmid, M.
;
Haan, E.
;
Baker, E.
;
Sutherland, G.
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.
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.
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.
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.
.
next >
Subject
41
Humans
33
Female
16
Child
15
Adult
12
Syndrome
11
Pedigree
10
Abnormalities, Multiple
10
Child, Preschool
10
Mutation
9
Infant
.
next >
Date issued
9
2010 - 2016
15
2000 - 2009
17
1995 - 1999