Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

Por Schoenmakers, Erik, Carlson, Bradley, Agostini, Maura, Moran, Carla, Rajanayagam, Odelia, Bochukova, Elena, Tobe, Ryuta, Peat, Rachel, Gevers, Evelien, Muntoni, Francesco, Guicheney, Pascale, Schoenmakers, Nadia, Farooqi, Sadaf, Lyons, Greta, Hatfield, Dolph, Chatterjee, Krishna
Publicado no J Clin Invest (2016)

A Novel Albumin Gene Mutation (R222I) in Familial Dysalbuminemic Hyperthyroxinemia

Por Schoenmakers, Nadia, Moran, Carla, Campi, Irene, Agostini, Maura, Bacon, Olivia, Rajanayagam, Odelia, Schwabe, John, Bradbury, Sonia, Barrett, Timothy, Geoghegan, Frank, Druce, Maralyn, Beck-Peccoz, Paolo, O'Toole, Angela, Clark, Penelope, Bignell, Michelle, Lyons, Greta, Halsall, David, Gurnell, Mark, Chatterjee, Krishna
Publicado em 2014

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

Por Nicholas, Adeline K., Serra, Eva G., Cangul, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M., Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Saglam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G., Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H., Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F., Gregory, John W., Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R., Chatterjee, V. Krishna K., Anderson, Carl A., Schoenmakers, Nadia
Publicado no J Clin Endocrinol Metab (2016)