1. A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. (2nd July 2016) Authors: Rahner, Nils; Nuernberg, Gudrun; Finis, David; Nuernberg, Peter; Royer-Pokora, Brigitte Journal: Ophthalmic genetics Issue: Volume 37:Number 3(2016) Page Start: 294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Age‐dependent performance of BRAF mutation testing in Lynch syndrome diagnostics. Issue 10 (14th September 2020) Authors: Bläker, Hendrik; Haupt, Saskia; Morak, Monika; Holinski‐Feder, Elke; Arnold, Alexander; Horst, David; Sieber‐Frank, Julia; Seidler, Florian; von Winterfeld, Moritz; Alwers, Elizabeth; Chang‐Claude, Jenny; Brenner, Hermann; Roth, Wilfried; Engel, Christoph; Löffler, Markus; Möslein, Gabriela; Scha... Journal: International journal of cancer Issue: Volume 147:Issue 10(2020) Page Start: 2801 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes. Issue 11 (3rd October 2018) Authors: Kayser, Katrin; Degenhardt, Franziska; Holzapfel, Stefanie; Horpaopan, Sukanya; Peters, Sophia; Spier, Isabel; Morak, Monika; Vangala, Deepak; Rahner, Nils; von Knebel‐Doeberitz, Magnus; Schackert, Hans K.; Engel, Christoph; Büttner, Reinhard; Wijnen, Juul; Doerks, Tobias; Bork, Peer; Moebus, Sus... Journal: International journal of cancer Issue: Volume 143:Issue 11(2018) Page Start: 2800 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Early detection of duodenal cancer by upper gastrointestinal‐endoscopy in Lynch syndrome. Issue 12 (7th August 2021) Authors: Vangala, Deepak B.; Ladigan‐Badura, Swetlana; Engel, Christoph; Hüneburg, Robert; Perne, Claudia; Bucksch, Karolin; Nattermann, Jacob; Steinke‐Lange, Verena; Rahner, Nils; Weitz, Jürgen; Kloor, Matthias; Tomann, Judith; Canbay, Ali; Nguyen, Huu‐Phuc; Strassburg, Christian; Möslein, Gabriele; Mora... Journal: International journal of cancer Issue: Volume 149:Issue 12(2021) Page Start: 2052 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium. Issue 6 (6th April 2013) Authors: Fischer, Christine; Kuchenbäcker, Karoline; Engel, Christoph; Zachariae, Silke; Rhiem, Kerstin; Meindl, Alfons; Rahner, Nils; Dikow, Nicola; Plendl, Hansjörg; Debatin, Irmgard; Grimm, Tiemo; Gadzicki, Dorothea; Flöttmann, Ricarda; Horvath, Judit; Schröck, Evelin; Stock, Friedrich; Schäfer, Dieter... Journal: Journal of medical genetics Issue: Volume 50:Issue 6(2013) Page Start: 360 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mechanical investigation of weak regions in a wound oxide-oxide ceramic matrix composite. Issue 15 (December 2018) Authors: Vasechko, Viacheslav; Flucht, Ferdinand; Rahner, Nils Journal: Journal of the European Ceramic Society Issue: Volume 38:Issue 15(2018) Page Start: 5192 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database. (April 2023) Authors: Dominguez-Valentin, Mev; Haupt, Saskia; Seppälä, Toni T.; Sampson, Julian R.; Sunde, Lone; Bernstein, Inge; Jenkins, Mark A.; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Balaguer, Francesc; Evans, Dafydd Gareth; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, ... Journal: EClinicalMedicine Issue: Volume 58(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Pathogenic PTPN11 variants involving the poly‐glutamine Gln255‐Gln256‐Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation. Issue 6 (11th March 2020) Authors: Martinelli, Simone; Pannone, Luca; Lissewski, Christina; Brinkmann, Julia; Flex, Elisabetta; Schanze, Denny; Calligari, Paolo; Anselmi, Massimiliano; Pantaleoni, Francesca; Canale, Viviana Claudia; Radio, Francesca Clementina; Ioannides, Adonis; Rahner, Nils; Schanze, Ina; Josifova, Dragana; Bocc... Journal: Human mutation Issue: Volume 41:Issue 6(2020) Page Start: 1171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. Issue 7 (29th February 2016) Authors: Kast, Karin; Rhiem, Kerstin; Wappenschmidt, Barbara; Hahnen, Eric; Hauke, Jan; Bluemcke, Britta; Zarghooni, Verena; Herold, Natalie; Ditsch, Nina; Kiechle, Marion; Braun, Michael; Fischer, Christine; Dikow, Nicola; Schott, Sarah; Rahner, Nils; Niederacher, Dieter; Fehm, Tanja; Gehrig, Andrea; Mue... Journal: Journal of medical genetics Issue: Volume 53:Issue 7(2016) Page Start: 465 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Issue 6 (13th February 2013) Authors: Vasen, Hans F A; Blanco, Ignacio; Aktan-Collan, Katja; Gopie, Jessica P; Alonso, Angel; Aretz, Stefan; Bernstein, Inge; Bertario, Lucio; Burn, John; Capella, Gabriel; Colas, Chrystelle; Engel, Christoph; Frayling, Ian M; Genuardi, Maurizio; Heinimann, Karl; Hes, Frederik J; Hodgson, Shirley V; Ka... Other Names: contributor. Journal: Gut Issue: Volume 62:Issue 6(2013) Page Start: 812 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗