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Results 41-50 of 95 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2003Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4Shaw, M.; Brunetti-Pierre, N.; Kadasi, L.; Kovacova, V.; van Maldergem, L.; De Brasi, D.; Salerno, M.; Gecz, J.
2000Quantative histomorphometric analysis of the human growth plate from birth to adolescenceByers, S.; Moore, A.; Byard, R.; Fazzalari, N.
2005Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationJensen, 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.
2002ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationBienvenu, 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.
2002National study of adverse reactions after vaccination with bacille Calmette-GuérinTurnbull, F.; McIntyre, P.; Achat, H.; Wang, H.; Stapledon, R.; Gold, M.; Burgess, M.
2007Acute lung injury in pediatric intensive care in Australia and New Zealand - A prospective, multicenter, observational studyErickson, S.; Schibler, A.; Numa, A.; Nuthall, G.; Yung, M.; Pascoe, E.; Wilkins, B.
2009Role of the multichannel intraluminal impedance technique in infants and childrenvan Wijk, M.; Benninga, M.; Omari, T.
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, 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.
2003Pharmacokinetics of a single oral dose of baclofen in pediatric patients with gastroesophageal reflux diseaseWiersma, H.; van Boxtel, C.; Butter, J.; van Aalderen, W.; Omari, T.; Benninga, M.
2008Videomanometric evaluation of pharyngo-oesophageal dysmotility in children with velocardiofacial syndromeRommel, N.; Davidson, G.; Cain, T.; Hebbard, G.; Omari, T.