Authors:
Bitner-Glindzicz, M
Lindley, KJ
Rutland, P
Blaydon, D
Smith, VV
Milla, PJ
Hussain, K
Furth-Lavi, J
Cosgrove, KE
Shepherd, RM
Barnes, PD
O'Brien, RE
Farndon, PA
Sowden, J
Liu, XZ
Scanlan, MJ
Malcolm, S
Dunne, MJ
Aynsley-Green, A
Glaser, B
Citation: M. Bitner-glindzicz et al., A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene, NAT GENET, 26(1), 2000, pp. 56-60
Authors:
Zonana, J
Elder, ME
Schneider, LC
Orlow, SJ
Moss, C
Golabi, M
Shapira, SK
Farndon, PA
Wara, DW
Emmal, SA
Ferguson, BM
Citation: J. Zonana et al., A novel X-linked disorder of immune deficiency and hypohidrotic ectodermaldysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO), AM J HU GEN, 67(6), 2000, pp. 1555-1562
Authors:
Cozzi, J
Conn, CM
Harper, J
Winston, RML
Rindl, M
Farndon, PA
Delhanty, JDA
Citation: J. Cozzi et al., A trisomic germ cell line and precocious chromatid segregation leads to recurrent trisomy 21 conception, HUM GENET, 104(1), 1999, pp. 23-28
Authors:
Brackley, KJ
Farndon, PA
Weaver, JB
Dow, DJ
Chapman, S
Kilby, MD
Citation: Kj. Brackley et al., Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation, PRENAT DIAG, 19(6), 1999, pp. 575-579