Congenital platelet disorders and health status–related quality of life

por Blaauwgeers, Maaike W., Kruip, Marieke J. H. A., Beckers, Erik A. M., Coppens, Michiel, Eikenboom, Jeroen, van Galen, Karin P. M., Tamminga, Rienk Y. J., Urbanus, Rolf T., Schutgens, Roger E. G.
Publicado 2019

Bleeding phenotype and diagnostic characterization of patients with congenital platelet defects

por Blaauwgeers, Maaike W., Kruip, Marieke J.H.A., Beckers, Erik A.M., Coppens, Michiel, Eikenboom, Jeroen, van Galen, Karin P.M., Tamminga, Rienk Y.J., Urbanus, Rolf T., Schutgens, Roger E.G.
Publicado 2020

The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects

por Blaauwgeers, Maaike W., van Asten, Ivar, Kruip, Marieke J.H.A., Beckers, Erik A.M., Coppens, Michiel, Eikenboom, Jeroen, van Galen, Karin P.M., Huisman, Albert, Korporaal, Suzanne J.A., Ploos van Amstel, Hans Kristian, Tamminga, Rienk Y.J., Urbanus, Rolf T., Schutgens, Roger E.G.
Publicado 2019

Flow cytometric mepacrine fluorescence can be used for the exclusion of platelet dense granule deficiency

por van Asten, Ivar, Blaauwgeers, Maaike, Granneman, Lianne, Heijnen, Harry F. G., Kruip, Marieke J. H. A., Beckers, Erik A. M., Coppens, Michiel, Eikenboom, Jeroen, Tamminga, Rienk Y. J., Pasterkamp, Gerard, Huisman, Albert, van Galen, Karin P. M., Korporaal, Suzanne J. A., Schutgens, Roger E. G., Urbanus, Rolf T.
Publicado 2019

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

por Riley, Lisa G., Heeney, Matthew M., Rudinger-Thirion, Joëlle, Frugier, Magali, Campagna, Dean R., Zhou, Ronghao, Hale, Gregory A., Hilliard, Lee M., Kaplan, Joel A., Kwiatkowski, Janet L., Sieff, Colin A., Steensma, David P., Rennings, Alexander J., Simons, Annet, Schaap, Nicolaas, Roodenburg, Richard J., Kleefstra, Tjitske, Arenillas, Leonor, Fita-Torró, Josep, Ahmed, Rasha, Abboud, Miguel, Bechara, Elie, Farah, Roula, Tamminga, Rienk Y. J., Bottomley, Sylvia S., Sanchez, Mayka, Huls, Gerwin, Swinkels, Dorine W., Christodoulou, John, Fleming, Mark D.
Publicado 2018