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Results 1-10 of 24 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2012
Reproductive technologies: the alchemy of life
Davies, M.
;
Haan, E.
2014
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis
Delatycki, M.
;
Burke, J.
;
Christie, L.
;
Collins, F.
;
Gabbett, M.
;
George, P.
;
Haan, E.
;
Ioannou, L.
;
Martin, N.
;
McKenzie, F.
;
O'Leary, P.
;
Scoble-Williams, N.
;
Turner, G.
;
Massie, J.
2015
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
McMichael, G.
;
Bainbridge, M.
;
Haan, E.
;
Corbett, M.
;
Gardner, A.
;
Thompson, S.
;
Van Bon, B.
;
Van Eyk, C.
;
Broadbent, J.
;
Reynolds, C.
;
O'Callaghan, M.
;
Nguyen, L.
;
Adelson, D.
;
Russo, R.
;
Jhangiani, S.
;
Doddapaneni, H.
;
Muzny, D.
;
Gibbs, R.
;
Gecz, J.
;
MacLennan, A.
2013
RPGR mutations might cause reduced orientation of respiratory cilia
Bukowy-Blerytto, Z.
;
Zletkiewicz, E.
;
Loges, N.
;
Wittmer, M.
;
Geremek, M.
;
Olbrich, H.
;
Filegauf, M.
;
Voelkel, K.
;
Rutkiewicz, E.
;
Rutland, J.
;
Morgan, L.
;
Pogorzelski, A.
;
Martin, A.
;
Haan, E.
;
Berger, W.
;
Omran, H.
;
Witt, M.
2013
Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH
Nicholl, J.
;
Waters, W.
;
Suwalski, S.
;
Brown, S.
;
Hull, Y.
;
Harbord, M.
;
Entwistle, J.
;
Thompson, S.
;
Clark, D.
;
Pridmore, C.
;
Haan, E.
;
Barnett, C.
;
McGregor, L.
;
Liebelt, J.
;
Thompson, E.
;
Friend, K.
;
Bain, S.
;
Yu, S.
;
Mulley, J.
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.
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.
Discover
Author
10
Gecz, J.
6
Thompson, E.
4
et al.
3
Corbett, M.
3
Friend, K.
3
Nguyen, L.
2
Albrecht, B.
2
Anderson, P.
2
David, D.
2
Field, M.
.
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Subject
13
Humans
10
Female
9
Male
8
Mutation
5
Intellectual Disability
5
Phenotype
4
Child
4
Child, Preschool
4
Pedigree
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