A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism

Por Koulouri, O., Nicholas, A. K., Schoenmakers, E., Mokrosinski, J., Lane, F., Cole, T., Kirk, J., Farooqi, I. S., Chatterjee, V. K., Gurnell, M., Schoenmakers, N.
Publicado no J Clin Endocrinol Metab (2016)

Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland

Por Nicholas, A.K., Jaleel, S., Lyons, G., Schoenmakers, E., Dattani, M.T., Crowne, E., Bernhard, B., Kirk, J., Roche, E.F., Chatterjee, V.K., Schoenmakers, N.
Publicado no Clin Endocrinol (Oxf) (2016)

The molecular landscape of ASPM mutations in primary microcephaly

Por 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
Publicado em 2009