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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Springe zu: 2022 | 2018 | 2016
Anzahl der Publikationen: 7

2022

Soares de Lima, Yasmin; Arnau-Collell, Coral; Muñoz, Jenifer; Herrera-Pariente, Cristina; Moreira, Leticia; Ocaña, Teresa; Díaz-Gay, Marcos; Franch-Expósito, Sebastià; Cuatrecasas, Miriam; Carballal, Sabela; Lopez-Novo, Anael; Moreno, Lorena; Fernàndez, Guerau; Díaz de Bustamante, Aranzazu; Peters, Sophia; Sommer, Anna K.; Spier, Isabel ORCID logoORCID: https://orcid.org/0000-0003-2407-7427; Paske, Iris B. A. W. te; Herwaarden, Yasmijn J. van; Castells, Antoni; Bujanda, Luis; Capellà, Gabriel; Steinke-Lange, Verena; Mahmood, Khalid; Joo, JiHoon Eric; Arnold, Julie; Parry, Susan; Macrae, Finlay A.; Winship, Ingrid M.; Rosty, Christophe; Cubiella, Joaquin; Rodríguez-Alcalde, Daniel; Holinski-Feder, Elke; Voer, Richarda de ORCID logoORCID: https://orcid.org/0000-0002-8222-0343; Buchanan, Daniel D ORCID logoORCID: https://orcid.org/0000-0003-2225-6675; Aretz, Stefan; Ruiz-Ponte, Clara; Valle, Laura; Balaguer, Francesc; Bonjoch, Laia und Castellvi-Bel, Sergi ORCID logoORCID: https://orcid.org/0000-0003-1217-5097 (2022): Germline mutations inWNK2could be associated with serrated polyposis syndrome. In: Journal of Medical Genetics, Bd. 60, Nr. 6: S. 557-567

Grosch, Mario; Stiebritz, Martin T.; Bolney, Robert; Winkler, Mario; Jueckstock, Eric; Busch, Hannah; Peters, Sophia; Siegle, Alexander F.; Slageren, Joris van; Ribbe, Markus; Hu, Yilin; Trapp, Oliver; Robl, Christian und Weigand, Wolfgang (2022): Mackinawite-Supported Reduction of C-1 Substrates into Prebiotically Relevant Precursors. In: Chemsystemschem, Bd. 4, Nr. 5, e202200010

Sommer, Anna K.; te Paske, Iris B. A. W.; Garcia-Pelaez, Jose; Laner, Andreas; Holinski-Feder, Elke; Steinke-Lange, Verena; Peters, Sophia; Valle, Laura; Spier, Isabel; Huntsman, David; de Voer, Richarda M.; Hoogerbrugge, Nicoline; Aretz, Stefan und Oliveira, Carla (2022): Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD. In: European Journal of Medical Genetics, Bd. 65, Nr. 5, 104475

2018

Kayser, Katrin; Degenhardt, Franziska; Holzapfel, Stefanie; Horpaopan, Sukanya; Peters, Sophia; Spier, Isabel; Morak, Monika; Vangala, Deepak; Rahner, Nils; Knebel Doeberitz, Magnus von; Schackert, Hans K.; Engel, Christoph; Büttner, Reinhard; Wijnen, Juul; Doerks, Tobias; Bork, Peer; Moebus, Susanne; Herms, Stefan; Fischer, Sascha; Hoffmann, Per; Aretz, Stefan und Steinke-Lange, Verena (2018): Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes. In: International Journal of Cancer, Bd. 143, Nr. 11: S. 2800-2813

2016

Spier, Isabel; Kerick, Martin; Drichel, Dmitriy; Horpaopan, Sukanya; Altmüller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Adam, Ronja; Zhao, Bixiao; Becker, Tim; Lifton, Richard P.; Holinski-Feder, Elke; Perner, Sven; Thiele, Holger; Nöthen, Markus M.; Hoffmann, Per; Timmermann, Bernd; Schweiger, Michal R. und Aretz, Stefan (2016): Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis. In: Familial Cancer, Bd. 15, Nr. 2: S. 281-288

Spier, Isabel; Drichel, Dmitriy; Kerick, Martin; Kirfel, Jutta; Horpaopan, Sukanya; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Adam, Ronja; Zhao, Bixiao; Becker, Tim; Lifton, Richard P.; Perner, Sven; Hoffmann, Per; Kristiansen, Glen; Timmermann, Bernd; Nöthen, Markus M.; Holinski-Feder, Elke; Schweiger, Michal R. und Aretz, Stefan (2016): Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. In: Journal of Medical Genetics, Bd. 53, Nr. 3: S. 172-179 [PDF, 1MB]

Adam, Ronja; Spier, Isabel; Zhao, Bixiao; Kloth, Michael; Marquez, Jonathan; Hinrichsen, Inga; Kirfel, Jutta; Tafazzoli, Aylar; Horpaopan, Sukanya; Uhlhaas, Siegfried; Stienen, Dietlinde; Friedrichs, Nicolaus; Altmueller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Kayser, Katrin; Thiele, Holger; Holinski-Feder, Elke; Marra, Giancarlo; Kristiansen, Glen; Nöthen, Markus M.; Buettner, Reinhard; Möslein, Gabriela; Betz, Regina C.; Brieger, Angela; Lifton, Richard P. und Aretz, Stefan (2016): Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. In: American Journal of Human Genetics, Bd. 99, Nr. 2: S. 337-351

Diese Liste wurde am Sat Dec 21 20:51:46 2024 CET erstellt.