Authors:
Rickard, S
Parker, M
van't Hoff, W
Barnicoat, A
Russell-Eggitt, I
Winter, RM
Bitner-Glindzicz, H
Citation: S. Rickard et al., Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM, HUM GENET, 108(5), 2001, pp. 398-403
Authors:
Rickard, S
Kelsell, DP
Sirimana, T
Rajput, K
MacArdle, B
Bitner-Glindzicz, M
Citation: S. Rickard et al., Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families, J MED GENET, 38(8), 2001, pp. 530-533
Authors:
Houseman, MJ
Ellis, LA
Pagnamenta, A
Di, WL
Rickard, S
Osborn, AH
Dahl, HHM
Taylor, GR
Bitner-Glindzicz, M
Reardon, W
Mueller, RF
Kelsell, DP
Citation: Mj. Houseman et al., Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss, J MED GENET, 38(1), 2001, pp. 20-25
Authors:
Rickard, S
Boxer, M
Trompeter, R
Bitner-Glindzicz, M
Citation: S. Rickard et al., Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes, J MED GENET, 37(8), 2000, pp. 623-627