Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

por Weisschuh, Nicole, Mazzola, Pascale, Bertrand, Miriam, Haack, Tobias B., Wissinger, Bernd, Kohl, Susanne, Stingl, Katarina
Publicado 2021

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

por Grünert, Sarah C., Hannibal, Luciana, Schumann, Anke, Rosenbaum-Fabian, Stefanie, Beck-Wödl, Stefanie, Haack, Tobias B., Grimmel, Mona, Bertrand, Miriam, Spiekerkoetter, Ute
Publicado 2021

Novel Variants of SOX4 in Patients with Intellectual Disability

por Grosse, Martin, Kuechler, Alma, Dabir, Tabib, Spranger, Stephanie, Beck-Wödl, Stefanie, Bertrand, Miriam, Haack, Tobias B., Grasemann, Corinna, Manka, Eva, Depienne, Christel, Kaiser, Frank J.
Publicado 2023

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q

por Diquigiovanni, Chiara, Rizzardi, Nicola, Kampmeier, Antje, Liparulo, Irene, Bianco, Francesca, De Nicolo, Bianca, Cataldi-Stagetti, Erica, Cuna, Elisabetta, Severi, Giulia, Seri, Marco, Bertrand, Miriam, Haack, Tobias B., Marina, Adela Della, Braun, Frederik, Fato, Romana, Kuechler, Alma, Bergamini, Christian, Bonora, Elena
Publicado 2023

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

por Beyltjens, Tessi, Boudin, Eveline, Revencu, Nicole, Boeckx, Nele, Bertrand, Miriam, Schütz, Leon, Haack, Tobias B, Weber, Axel, Biliouri, Eleni, Vinkšel, Mateja, Zagožen, Anja, Peterlin, Borut, Pai, Shashidhar, Telegrafi, Aida, Henderson, Lindsay B, Ells, Courtney, Turner, Lesley, Wuyts, Wim, Van Hul, Wim, Hendrickx, Gretl, Mortier, Geert R
Publicado 2023

Cell-free tumor DNA, CA125 and HE4 for the objective assessment of tumor burden in patients with advanced high-grade serous ovarian cancer

por Heitz, Florian, Lakis, Sotirios, Harter, Philipp, Heikaus, Sebastian, Sehouli, Jalid, Talwar, Jatin, Menon, Roopika, Ataseven, Beyhan, Bertrand, Miriam, Schneider, Stephanie, Mariotti, Erika, Bommert, Mareike, Müller, Judith N., Prader, Sonia, Leenders, Frauke, Hengsbach, Alexandra, Gloeckner, Christian, Braicu, Elena Ioana, Heukamp, Lukas C., du Bois, Andreas, Heuckmann, Johannes M.
Publicado 2022