检索结果 - Overwater, Eline

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant 由 Overwater, Eline, Efrat, Rifka, Barge‐Schaapveld, Daniela Q. C. M., Lakeman, Phillis, Weiss, Marjan M., Maugeri, Alessandra, van Tintelen, J. Peter, Houweling, Arjan C.

获取全文 获取全文 获取全文

Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts 由 Satchwell, Timothy J., Bell, Amanda J., Hawley, Bethan R., Pellegrin, Stephanie, Mordue, Kathryn E., van Deursen, Cees Th. B. M., Braak, Nicole Heitink-ter, Huls, Gerwin, Leers, Mathie P.G, Overwater, Eline, Tamminga, Rienk Y. J., van der Zwaag, Bert, Fermo, Elisa, Bianchi, Paola, van Wijk, Richard, Toye, Ashley M.

获取全文 获取全文 获取全文

Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders 由 Overwater, Eline, Marsili, Luisa, Baars, Marieke J.H., Baas, Annette F., van de Beek, Irma, Dulfer, Eelco, van Hagen, Johanna M., Hilhorst‐Hofstee, Yvonne, Kempers, Marlies, Krapels, Ingrid P., Menke, Leonie A., Verhagen, Judith M.A., Yeung, Kak K., Zwijnenburg, Petra J.G., Groenink, Maarten, van Rijn, Peter, Weiss, Marjan M., Voorhoeve, Els, van Tintelen, J. Peter, Houweling, Arjan C., Maugeri, Alessandra

获取全文 获取全文 获取全文

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice 由 Houweling, Arjan C., Beaman, Glenda M., Postma, Alex V., Gainous, T. Blair, Lichtenbelt, Klaske D., Brancati, Francesco, Lopes, Filipa M., van der Made, Ingeborg, Polstra, Abeltje M., Robinson, Michael L., Wright, Kevin D., Ellingford, Jamie M., Jackson, Ashley R., Overwater, Eline, Genesio, Rita, Romano, Silvio, Camerota, Letizia, D’Angelo, Emanuela, Meijers-Heijboer, Elizabeth J., Christoffels, Vincent M., McHugh, Kirk M., Black, Brian L., Newman, William G., Woolf, Adrian S., Creemers, Esther E.

获取全文 获取全文 获取全文

Primrose syndrome: Characterization of the phenotype in 42 patients 由 Melis, Daniela, Carvalho, Daniel, Barbaro‐Dieber, Tina, Espay, Alberto J., Gambello, Michael J., Gener, Blanca, Gerkes, Erica, Hitzert, Marrit M., Hove, Hanne B., Jansen, Sandra, Jira, Petr E., Lachlan, Katherine, Menke, Leonie A., Narayanan, Vinodh, Ortiz, Damara, Overwater, Eline, Posmyk, Renata, Ramsey, Keri, Rossi, Alessandro, Sandoval, Renata Lazari, Stumpel, Constance, Stuurman, Kyra E., Cordeddu, Viviana, Turnpenny, Peter, Strisciuglio, Pietro, Tartaglia, Marco, Unger, Sheela, Waters, Todd, Turnbull, Clare, Hennekam, Raoul C.

获取全文 获取全文 获取全文