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

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

Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy

por Arts, H, Schmidts, M, Bongers, EMHF, Oud, MM, Duijkers, LEM, Yap, Z, Stalker, J, Yntema, JL, Hoischen, A, Gilissen, C, Veltman, JA, Kutkowska-Kaźmierczak, A, Kamsteeg, EJ, Scambler, PJ, Beales, PL, Knoers, NVAM, Roepman, R, Mitchison, HM
Publicado 2012