Citation: M. Super et al., Failure to refer for testing for cystic fibrosis - Doctors must ensure that those with a family history are advised appropriately, BR MED J, 322(7282), 2001, pp. 310-311
Authors:
Watson, P
Black, G
Ramsden, S
Barrow, M
Super, M
Kerr, B
Clayton-Smith, J
Citation: P. Watson et al., Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein, J MED GENET, 38(4), 2001, pp. 224-228
Authors:
de Vries, BBA
White, SM
Knight, SJL
Regan, R
Homfray, T
Young, ID
Super, M
McKeown, C
Splitt, M
Quarrell, OWJ
Trainer, AH
Niermeijer, MF
Malcolm, S
Flint, J
Hurst, JA
Winter, RM
Citation: Bba. De Vries et al., Clinical studies on submicroscopic subtelomeric rearrangements: a checklist, J MED GENET, 38(3), 2001, pp. 145-150
Authors:
Perveen, R
Lloyd, IC
Clayton-Smith, J
Churchill, A
van Heyningen, V
Hanson, I
Taylor, D
McKeown, C
Super, M
Kerr, B
Winter, R
Black, GCM
Citation: R. Perveen et al., Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations, INV OPHTH V, 41(9), 2000, pp. 2456-2460
Authors:
Arkwright, PD
Laurie, S
Super, M
Pravica, V
Schwarz, MJ
Webb, AK
Hutchinson, IV
Citation: Pd. Arkwright et al., TGF-beta(1) genotype and accelerated decline in lung function of patients with cystic fibrosis, THORAX, 55(6), 2000, pp. 459-462
Authors:
Bohring, A
Lewin, SO
Reynolds, JF
Voigtlander, T
Rittinger, O
Carey, JC
Kopernik, M
Smith, R
Zackai, EH
Leonard, NJ
Gritter, HL
Bamforth, JS
Okun, N
McLeod, DR
Super, M
Powell, P
Mundlos, S
Hennekam, RCM
van Langen, IM
Viskochil, DH
Wiedemann, HR
Opitz, JM
Citation: A. Bohring et al., Polytopic anomalies with agenesis of the lower vertebral column, AM J MED G, 87(2), 1999, pp. 99-114
Authors:
Gillies, SD
Lan, Y
Lo, KM
Super, M
Wesolowski, J
Citation: Sd. Gillies et al., Improving the efficacy of antibody-interleukin 2 fusion proteins by reducing their interaction with Fc receptors, CANCER RES, 59(9), 1999, pp. 2159-2166
Authors:
Akobeng, AK
Clayton, PT
Miller, V
Super, M
Thomas, AG
Citation: Ak. Akobeng et al., An inborn error of bile acid synthesis (3 beta-hydroxy-Delta(5)-C-27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets, ARCH DIS CH, 80(5), 1999, pp. 463-465