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 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 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 2009