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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 3
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: 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: https://orcid.org/0000-0002-8222-0343; Buchanan, Daniel D ORCID: https://orcid.org/0000-0003-2225-6675; Aretz, Stefan; Ruiz-Ponte, Clara; Valle, Laura; Balaguer, Francesc; Bonjoch, Laia und Castellvi-Bel, Sergi ORCID: 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
ORCID: 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: https://orcid.org/0000-0002-8222-0343; Buchanan, Daniel D ORCID: https://orcid.org/0000-0003-2225-6675; Aretz, Stefan; Ruiz-Ponte, Clara; Valle, Laura; Balaguer, Francesc; Bonjoch, Laia und Castellvi-Bel, Sergi ORCID: 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
2021
Dominguez-Valentin, Mev; Plazzer, John-Paul; Sampson, Julian R.; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Macrae, Finlay; Winship, Ingrid M.; Thomas, Huw; Evans, Dafydd Gareth; Burn, John; Greenblatt, Marc; Vos Tot Nederveen Cappel, Wouter H. de; Sijmons, Rolf H.; Nielsen, Maartje; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; Lopez-Kostner, Francisco; Alvarez, Karin; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Nakken, Sigve; Hovig, Eivind; Green, Kate; Lalloo, Fiona; Hill, James; Vasen, Hans F. A.; Perne, Claudia; Büttner, Reinhard; Görgens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; Knebel Doeberitz, Magnus von; Loeffler, Markus; Rahner, Nils; Weitz, Jürgen; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Crosbie, Emma J.; Pineda, Marta; Navarro, Matilde; Brunet, Joan; Moreira, Leticia; Sanchez, Ariadna; Serra-Burriel, Miquel; Mints, Miriam; Kariv, Revital; Rosner, Guy; Pinero, Tamara Alejandra; Pavicic, Walter Hernan; Kalfayan, Pablo; Broeke, Sanne W. ten; Mecklin, Jukka-Pekka; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Peltomäki, Päivi; Hopper, John L.; Win, Aung Ko; Buchanan, Daniel D.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Hansen, Thomas V. O.; Lindberg, Lars; Rodland, Einar Andreas; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Möslein, Gabriela; Seppälä, Toni T. und Moller, Pal
(2021):
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
In: Journal of Clinical Medicine, Bd. 10, Nr. 13, 2856
2020
Dominguez-Valentin, Mev; Sampson, Julian R.; Seppala, Toni T.; ten Broeke, Sanne W.; Plazzer, John-Paul; Nakken, Sigve; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Thomas, Huw; Evans, D. Gareth; Burn, John; Greenblatt, Marc; Hovig, Eivind; Vos Tot Nederveen Cappel, Wouter H. de; Sijmons, Rolf H.; Bertario, Lucio; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; Lopez-Kostner, Francisco; Gluck, Nathan; Katz, Lior H.; Heinimann, Karl; Vaccaro, Carlos A.; Buettner, Reinhard; Goergens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Knebel Doeberitz, Magnus von; Loeffler, Markus; Rahner, Nils; Schackert, Hans K.; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Wadt, Karin; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Moreira, Leticia; Sanchez, Ariadna; Serra-Burriel, Miquel; Pineda, Marta; Navarro, Matilde; Blanco, Ignacio; Green, Kate; Lalloo, Fiona; Crosbie, Emma J.; Hill, James; Denton, Oliver G.; Frayling, Ian M.; Rodland, Einar Andreas; Vasen, Hans; Mints, Miriam; Neffa, Florencia; Esperon, Patricia; Alvarez, Karin; Kariv, Revital; Rosner, Guy; Pinero, Tamara Alejandra; Gonzalez, Maria Laura; Kalfayan, Pablo; Tjandra, Douglas; Winship, Ingrid M.; Macrae, Finlay; Möslein, Gabriela; Mecklin, Jukka-Pekka; Nielsen, Maartje und Moller, Pal
(2020):
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
In: Genetics in Medicine, Bd. 22, Nr. 1: S. 15-25