The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives

Por Bogaert, Delfien J.A., De Bruyne, Marieke, Debacker, Veronique, Depuydt, Pauline, De Preter, Katleen, Bonroy, Carolien, Philippé, Jan, Bordon, Victoria, Lambrecht, Bart N., Kerre, Tessa, Cerutti, Andrea, Vermaelen, Karim Y., Haerynck, Filomeen, Dullaers, Melissa
Publicado no Haematologica (2017)

Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1

Por Coppieters, Frauke, Todeschini, Anne Laure, Fujimaki, Takuro, Baert, Annelot, De Bruyne, Marieke, Van Cauwenbergh, Caroline, Verdin, Hannah, Bauwens, Miriam, Ongenaert, Maté, Kondo, Mineo, Meire, Françoise, Murakami, Akira, Veitia, Reiner A., Leroy, Bart P., De Baere, Elfride
Publicado no Hum Mutat (2015)

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

Por Bogaert, Delfien J., Dullaers, Melissa, Kuehn, Hye Sun, Leroy, Bart P., Niemela, Julie E., De Wilde, Hans, De Schryver, Sarah, De Bruyne, Marieke, Coppieters, Frauke, Lambrecht, Bart N., De Baets, Frans, Rosenzweig, Sergio D., De Baere, Elfride, Haerynck, Filomeen
Publicado no Sci Rep (2017)

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

Por Coppieters, Frauke, Ascari, Giulia, Dannhausen, Katharina, Nikopoulos, Konstantinos, Peelman, Frank, Karlstetter, Marcus, Xu, Mingchu, Brachet, Cécile, Meunier, Isabelle, Tsilimbaris, Miltiadis K., Tsika, Chrysanthi, Blazaki, Styliani V., Vergult, Sarah, Farinelli, Pietro, Van Laethem, Thalia, Bauwens, Miriam, De Bruyne, Marieke, Chen, Rui, Langmann, Thomas, Sui, Ruifang, Meire, Françoise, Rivolta, Carlo, Hamel, Christian P., Leroy, Bart P., De Baere, Elfride
Publicado no Am J Hum Genet (2016)