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Results 1-10 of 12 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2002
Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies
Baker, E.
;
Hinton, L.
;
Callen, D.
;
Altree, M.
;
Dobbie, A.
;
Eyre, H.
;
Sutherland, G.
;
Thompson, E.
;
Thompson, P.
;
Woollatt, E.
;
Haan, E.
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.
2003
PEHO and PEHO-like syndromes: Report of five Australian cases
Field, M.
;
Grattan-Smith, P.
;
Piper, S.
;
Thompson, E.
;
Haan, E.
;
Edwards, M.
;
James, S.
;
Wilkinson, I.
;
Ades, L.
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.
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.
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.
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.
1998
Autosomal dominant Klippel-Feil anomaly with cleft palate
Thompson, E.
;
Haan, E.
;
Sheffield, L.
2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
Andreucci, E.
;
Aftimos, S.
;
Alcausin, M.
;
Haan, E.
;
Hunter, W.
;
Kannu, P.
;
Kerr, B.
;
McGillivray, G.
;
McKinlay Gardner, R.
;
Patricelli, M.
;
Sillence, D.
;
Thompson, E.
;
Zacharin, M.
;
Zankl, A.
;
Lamande, S.
;
Savarirayan, R.
Discover
Author
3
Friend, K.
2
David, D.
2
Field, M.
2
Gecz, J.
2
Liebelt, J.
2
Mulley, J.
2
Nicholl, J.
2
Savarirayan, R.
2
Yu, S.
1
Ades, L.
.
next >
Subject
1
Australia
1
autism
1
Autosomal Dominant Brachyolmia (A...
1
C9orf72 Protein
1
Child, Preschool
1
Chromosomes, Human, Pair 1
1
Chromosomes, Human, Pair 2
1
Cleft Palate
1
CNV
1
Craniosynostoses
.
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2010 - 2015
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2000 - 2009
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1997 - 1999