The Subcellular Localization of an Aquaporin-2 Tetramer Depends on the Stoichiometry of Phosphorylated and Nonphosphorylated Monomers

por Kamsteeg, E.J., Heijnen, I., van Os, C.H., Deen, P.M.T.
Publicado 2000

Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

por Ali, A. M., Mbwasi, R. M., Kinabo, G., Kamsteeg, E.-J., Hamel, B. C., Dekker, M. C. J.
Publicado 2017

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

por Krabbenborg, Lotte, Vissers, L. E. L. M., Schieving, J., Kleefstra, T., Kamsteeg, E. J., Veltman, J. A., Willemsen, M. A., Van der Burg, S.
Publicado 2016

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11

por Kramer, J.J., Boon, H.T.M., Leijten, Q.H., Ter Laak, Henk, Eshuis, L., Kusters, B., van Doorn, J.L.M., Kamsteeg, E.J., Eymard, B., Doorduin, J., Voermans, N.C.
Publicado 2023

The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers

por Kruijt, N., van den Bersselaar, L. R., Kamsteeg, E. J., Verbeeck, W., Snoeck, M. M. J., Everaerd, D. S., Abdo, W. F., Jansen, D. R. M., Erasmus, C. E., Jungbluth, H., Voermans, N. C.
Publicado 2020

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

por Knuiman, G. J., Küsters, B., Eshuis, L., Snoeck, M., Lammens, M., Heytens, L., De Ridder, W., Baets, J., Scalco, R. S., Quinlivan, R., Holton, J., Bodi, I., Wraige, E., Radunovic, A., von Landenberg, C., Reimann, J., Kamsteeg, E.-J., Sewry, C., Jungbluth, H., Voermans, N. C.
Publicado 2019