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Issue Date
Title
Author(s)
2003
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4
Shaw, M.
;
Brunetti-Pierre, N.
;
Kadasi, L.
;
Kovacova, V.
;
van Maldergem, L.
;
De Brasi, D.
;
Salerno, M.
;
Gecz, J.
2000
Quantative histomorphometric analysis of the human growth plate from birth to adolescence
Byers, S.
;
Moore, A.
;
Byard, R.
;
Fazzalari, N.
2005
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
Jensen, L.
;
Amende, M.
;
Gurok, U.
;
Moser, B.
;
Gimmel, V.
;
Tzschach, A.
;
Janecke, A.
;
Tariverdian, G.
;
Chelly, J.
;
Fryns, J.
;
Van Esch, H.
;
Kleefstra, T.
;
Hamel, B.
;
Moraine, C.
;
Gecz, J.
;
Turner, G.
;
Reinhardt, R.
;
Kalscheuer, V.
;
Ropers, H.
;
Lenzer, S.
2002
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
Bienvenu, T.
;
Poirier, K.
;
Friocourt, G.
;
Bahi, N.
;
Beaumont, D.
;
Fauchereau, F.
;
Jeema, L.
;
Zemni, R.
;
Vinet, M.
;
Francis, F.
;
Couvert, P.
;
Gomot, M.
;
Moraine, C.
;
van Bokhoven, H.
;
Kalscheuer, V.
;
Frints, S.
;
Gecz, J.
;
Ohzaki, K.
;
Chaabouni, H.
;
Fryns, J.
;
et al.
2002
National study of adverse reactions after vaccination with bacille Calmette-Guérin
Turnbull, F.
;
McIntyre, P.
;
Achat, H.
;
Wang, H.
;
Stapledon, R.
;
Gold, M.
;
Burgess, M.
2007
Acute lung injury in pediatric intensive care in Australia and New Zealand - A prospective, multicenter, observational study
Erickson, S.
;
Schibler, A.
;
Numa, A.
;
Nuthall, G.
;
Yung, M.
;
Pascoe, E.
;
Wilkins, B.
2009
Role of the multichannel intraluminal impedance technique in infants and children
van Wijk, M.
;
Benninga, M.
;
Omari, T.
2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, A.
;
Christie, P.
;
Grigorieva, I.
;
Harding, B.
;
Van Esch, H.
;
Ahmed, S.
;
Bitner-Glindzicz, M.
;
Blind, E.
;
Bloch, C.
;
Christin, P.
;
Clayton, P.
;
Gecz, J.
;
Gilbert-Dussardier, B.
;
Guillen-Navarro, E.
;
Hackett, A.
;
Halac, I.
;
Hendy, G.
;
Lalloo, F.
;
Mache, C.
;
Mughal, Z.
;
et al.
2003
Pharmacokinetics of a single oral dose of baclofen in pediatric patients with gastroesophageal reflux disease
Wiersma, H.
;
van Boxtel, C.
;
Butter, J.
;
van Aalderen, W.
;
Omari, T.
;
Benninga, M.
2008
Videomanometric evaluation of pharyngo-oesophageal dysmotility in children with velocardiofacial syndrome
Rommel, N.
;
Davidson, G.
;
Cain, T.
;
Hebbard, G.
;
Omari, T.
Discover
Author
11
Davidson, G.
10
Hopwood, J.
8
Gecz, J.
8
Omari, T.
7
Gold, M.
6
Baghurst, P.
6
Fletcher, J.
5
et al.
5
Martin, A.
4
Benninga, M.
.
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Subject
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Child
62
Male
57
Female
55
Infant
44
Adolescent
30
Adult
26
Infant, Newborn
18
Australia
16
Mutation
14
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2005
7
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2002
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2001
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