Auflistung Universitätsbibliographie nach Autor "Bertrand, Miriam"

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Auflistung Universitätsbibliographie nach Autor "Bertrand, Miriam"

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  • A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies
    Dufke, Andreas; Hoopmann, Markus; Waldmuller, Stephan; Prodan, Natalia Carmen; Beck-Woedl, Stefanie; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Falb, Ruth J.; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Mueller, Amelie J.; Grimmel, Mona; Stoebe, Petra; Gauck, Darja; Buchert-Lo, Rebecca; Baumann, Sarah; Schaeferhoff, Karin; Bertrand, Miriam; Menden, Benita; Sturm, Marc; Schuetz, Leon; Riess, Olaf; Ossowski, Stephan; Haack, Tobias B.; Kagan, Karl Oliver (2022)
  • Cell-free tumor DNA, CA125 and HE4 for the objective assessment of tumor burden in patients with advanced high-grade serous ovarian cancer
    Heitz, Florian; Lakis, Sotirios; Harter, Philipp; Heikaus, Sebastian; Sehouli, Jalid; Talwar, Jatin; Menon, Roopika; Ataseven, Beyhan; Bertrand, Miriam; Schneider, Stephanie; Mariotti, Erika; Bommert, Mareike; Mueller, Judith N.; Prader, Sonia; Leenders, Frauke; Hengsbach, Alexandra; Gloeckner, Christian; Braicu, Elena Ioana; Heukamp, Lukas C.; du Bois, Andreas; Heuckmann, Johannes M. (2022)
  • Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants
    Weisschuh, Nicole; Mazzola, Pascale; Bertrand, Miriam; Haack, Tobias B.; Wissinger, Bernd; Kohl, Susanne; Stingl, Katarina (2021)
  • Clustered variants in the 5 ' coding region of TRA2B cause a distinctive neurodevelopmental syndrome
    Ramond, Francis; Dalgliesh, Caroline; Grimmel, Mona; Wechsberg, Oded; Vetro, Annalisa; Guerrini, Renzo; FitzPatrick, David; Poole, Rebecca L.; Lebrun, Marine; Bayat, Allan; Grasshoff, Ute; Bertrand, Miriam; Witt, Dennis; Turnpenny, Peter D.; Faundes, Victor; Santa Maria, Lorena; Fuentes, Carolina Mendoza; Mabe, Paulina; Hussain, Shaun A.; Mullegama, Sureni V.; Torti, Erin; Oehl-Jaschkowitz, Barbara; Salmon, Lina Basel; Orenstein, Naama; Shahar, Noa Ruhrman; Hagari, Ofir; Bazak, Lily; Hoffjan, Sabine; Prada, Carlos E.; Haack, Tobias; Elliott, David J. (2023)
  • Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia
    Beyltjens, Tessi; Boudin, Eveline; Revencu, Nicole; Boeckx, Nele; Bertrand, Miriam; Schuetz, Leon; Haack, Tobias B.; Weber, Axel; Biliouri, Eleni; Vinksel, Mateja; Zagozen, Anja; Peterlin, Borut; Pai, Shashidhar; Telegrafi, Aida; Henderson, Lindsay B.; Ells, Courtney; Turner, Lesley; Wuyts, Wim; Van Hul, Wim; Hendrickx, Gretl; Mortier, Geert R. (2023)
  • HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
    Niggl, Eva; Bouman, Arjan; Briere, Lauren C.; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D. R. O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; McPheron, Molly; Muss, Candace L.; Raible, Sarah E.; Robin, Nathaniel H.; Spiller, Michael; Starling, Susan; Sweetser, David A.; Thiffault, Isabelle; Vetrini, Francesco; Witt, Dennis; Woods, Emily; Genomics England Res Consortium, Ype; Undiagnosed Dis Network, Annelot C. M. van; Elgersma, Ype; van Esbroeck, Annelot C. M. (2023)
  • Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families
    Grunert, Sarah C.; Hannibal, Luciana; Schumann, Anke; Rosenbaum-Fabian, Stefanie; Beck-Wodl, Stefanie; Haack, Tobias B.; Grimmel, Mona; Bertrand, Miriam; Spiekerkoetter, Ute (2021)
  • Isolated cytokine-enriched pericardial effusion: A likely key feature for Ayme-Gripp syndrome
    Koenig, Anna-Lina; Sabir, Hemmen; Stritzek, Brigitte; Gembruch, Ulrich; Herberg, Ulrike; Bertrand, Miriam; Grasshoff, Ute; Wiegand, Gesa; Wiechers, Cornelia; Bernis, Eugenia; Reutter, Heiko; Mueller, Andreas (2022)
  • Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
    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 (2023)
  • Novel Variants of SOX4 in Patients with Intellectual Disability
    Grosse, Martin; Kuechler, Alma; Dabir, Tabib; Spranger, Stephanie; Beck-Woedl, Stefanie; Bertrand, Miriam; Haack, Tobias B.; Grasemann, Corinna; Manka, Eva; Depienne, Christel; Kaiser, Frank J. (2023)
  • The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
    Rots, Dmitrijs; Jakub, Taryn E.; Keung, Crystal; Lisenka, Vissers E. L. M.; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B. A.; van Jaarsveld, Richard H.; Hopman, Saskia M. J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortuem, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibaek, Maria; Prijoles, Eloise J.; Stevenson, Roger E.; Everman, David B.; Patterson, Wesley G.; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J.; Garcia, Maria Soledad Lopez; Perrier, Renee; Sousa, Sergio B.; Almeida, Pedro M.; Simoes, Maria Jose; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A.; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J.; Garavelli, Livia; Caraffi, Stefano G.; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tiller, George E.; Bosch, Danielle G. M.; Potgieter, Stephanus T.; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G.; Freitag, Christine M.; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D.; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W.; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Benedicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M.; Haack, Tobias B.; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J.; Riess, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F.; Liebelt, Jan; Dagli, Aditi I.; Aten, Emmelien; Hurst, Anna C. E.; Hicks, Alesha; Suri, Mohnish (2023)