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

An approach to quantifying abnormalities in energy expenditure and lean mass in metabolic disease

por Watson, L P E, Raymond-Barker, P, Moran, C, Schoenmakers, N, Mitchell, C, Bluck, L, Chatterjee, V K, Savage, D B, Murgatroyd, P R
Publicado 2014

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

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

por Joustra, S. D., Heinen, C. A., Schoenmakers, N., Bonomi, M., Ballieux, B. E. P. B., Turgeon, M.-O., Bernard, D. J., Fliers, E., van Trotsenburg, A. S. P., Losekoot, M., Persani, L., Wit, J. M., Biermasz, N. R., Pereira, A. M., Oostdijk, W.
Publicado 2016