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Issue Date
Title
Author(s)
2004
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) Syndrome
White, S.
;
Thompson, E.
;
Kidd, A.
;
Savarirayan, R.
;
Turner, A.
;
Amor, D.
;
Delatycki, M.
;
Fahey, M.
;
Baxendale, A.
;
White, S.
;
Haan, E.
;
Gibson, K.
;
Halliday, J.
;
Bankier, A.
1997
First-trimester diagnosis of Smith-Lemli-Opitz syndrome
Sharp, P.
;
Haan, E.
;
Fletcher, J.
;
Khong, T.
;
Carey, W.
2015
Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability
Grozeva, D.
;
Carss, K.
;
Spasic-Boskovic, O.
;
Tejada, M.
;
Gecz, J.
;
Shaw, M.
;
Corbett, M.
;
Haan, E.
;
Thompson, E.
;
Friend, K.
;
Hussain, Z.
;
Hackett, A.
;
Field, M.
;
Renieri, A.
;
Stevenson, R.
;
Schwartz, C.
;
Floyd, J.
;
Bentham, J.
;
Cosgrove, C.
;
Keavney, B.
;
et al.
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
Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 australian and new zealand patients
Roscioli, T.
;
Haan, E.
;
Thompson, E.
;
David, D.
;
Anderson, P.
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.
2011
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation
Masurel-Paulet, A.
;
Haan, E.
;
Thompson, E.
;
Goizet, C.
;
Thauvin-Robinet, C.
;
Tai, A.
;
Kennedy, J.
;
Smith, G.
;
Khong, T.
;
Sole, G.
;
Guerineau, E.
;
Coupry, I.
;
Huet, F.
;
Robertson, S.
;
Faivre, L.
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.
Discover
Author
13
Gecz, J.
12
Thompson, E.
9
Ades, L.
9
Chan, A.
9
et al.
6
Sutherland, G.
6
Suthers, G.
5
Butow, P.
5
Eyre, H.
5
Friend, K.
.
next >
Subject
64
Humans
50
Female
41
Male
25
Adult
18
Child
15
Pedigree
15
Syndrome
13
Abnormalities, Multiple
13
Child, Preschool
13
Mutation
.
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Date issued
24
2010 - 2016
35
2000 - 2009
32
1995 - 1999