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Issue Date
Title
Author(s)
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.
2013
Single-nucleotide polymorphism associations with preterm delivery: a case-control replication study and meta-analysis
O'Callaghan, M.
;
MacLennan, A.
;
McMichael, G.
;
Haan, E.
;
Dekker, G.
2008
Association between apolipoprotein E genotype and cerebral palsy is not confirmed in a caucasian population
McMichael, G.
;
Gibson, C.
;
Goldwater, P.
;
Haan, E.
;
Priest, K.
;
Dekker, G.
;
MacLennan, A.
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.
2001
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome
Kelberman, D.
;
Tyson, J.
;
Chandler, D.
;
McInerney, A.
;
Slee, J.
;
Albert, D.
;
Aymat, A.
;
Botma, M.
;
Calvert, M.
;
Goldblatt, J.
;
Haan, E.
;
Laing, N.
;
Lim, J.
;
Malcolm, S.
;
Singer, S.
;
Winter, R.
;
Bitner-Glindzicz, M.
1999
Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells
Hussey, N.
;
Donggui, H.
;
Froiland, D.
;
Hussey, D.
;
Haan, E.
;
Matthews, C.
;
Craig, J.
1998
Autosomal dominant Klippel-Feil anomaly with cleft palate
Thompson, E.
;
Haan, E.
;
Sheffield, L.
1998
SHORT syndrome: distinctive radiographic features
Haan, E.
;
Morris, L.
2000
Breast cancer screening uptake in women at increased risk of developing hereditary breast cancer
Meiser, B.
;
Butow, P.
;
Barratt, A.
;
Friedlander, M.
;
Kirk, J.
;
Gaff, C.
;
Haan, E.
;
Aittomaki, K.
;
Tucker, K.
Discover
Author
12
Gecz, J.
8
Ades, L.
8
Chan, A.
7
MacLennan, A.
6
Dekker, G.
6
et al.
5
Gibson, C.
5
Keane, R.
5
McMichael, G.
5
Sutherland, G.
.
next >
Subject
55
Female
44
Male
26
Adult
19
Child
17
Pregnancy
16
Pedigree
15
Syndrome
14
Abnormalities, Multiple
14
Child, Preschool
14
Mutation
.
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Date issued
18
2010 - 2016
26
2000 - 2009
28
1995 - 1999