The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity

le DEEBLE, V. J., ROBERTS, E., JACKSON, A., LENCH, N., KARBANI, G., WOODS, C. G.
Foilsithe 2000

Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.

le Shaw, N J, Haigh, D, Lealmann, G T, Karbani, G, Brocklebank, J T, Dillon, M J
Foilsithe 1991

Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

le Woods, C. G., Stricker, S., Seemann, P., Stern, R., Cox, J., Sherridan, E., Roberts, E., Springell, K., Scott, S., Karbani, G., Sharif, S. M., Toomes, C., Bond, J., Kumar, D., Al-Gazali, L., Mundlos, S.
Foilsithe 2006

The molecular landscape of ASPM mutations in primary microcephaly

le Nicholas, A K, Swanson, E A, Cox, J J, Karbani, G, Malik, S, Springell, K, Hampshire, D, Ahmed, M, Bond, J, Di Benedetto, D, Fichera, M, Romano, C, Dobyns, W B, Woods, C G
Foilsithe 2009

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

le Jackson, A P, McHale, D P, Campbell, D A, Jafri, H, Rashid, Y, Mannan, J, Karbani, G, Corry, P, Levene, M I, Mueller, R F, Markham, A F, Lench, N J, Woods, C G
Foilsithe 1998

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.

le Campbell, D A, McHale, D P, Brown, K A, Moynihan, L M, Houseman, M, Karbani, G, Parry, G, Janjua, A H, Newton, V, al-Gazali, L, Markham, A F, Lench, N J, Mueller, R F
Foilsithe 1997

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

le Bond, J, Flintoff, K, Higgins, J, Scott, S, Bennet, C, Parsons, J, Mannon, J, Jafri, H, Rashid, Y, Barrow, M, Trembath, R, Woodruff, G, Rossa, E, Lynch, S, Sheilds, J, Newbury-Ecob, R, Falconer, A, Holland, P, Cockburn, D, Karbani, G, Malik, S, Ahmed, M, Roberts, E, Taylor, G, Woods, C
Foilsithe 2005

Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21

le Crow, Y. J., Jackson, A. P., Roberts, E., van Beusekom, E., Barth, P., Corry, P., Ferrie, C. D., Hamel, B. C. J., Jayatunga, R., Karbani, G., Kálmánchey, R., Kelemen, A., King, M., Kumar, R., Livingstone, J., Massey, R., McWilliam, R., Meager, A., Rittey, C., Stephenson, J. B. P., Tolmie, J. L., Verrips, A., Voit, T., van Bokhoven, H., Brunner, H. G., Woods, C. G.
Foilsithe 2000