Anzahl der Einträge: 6.
2022
Dumont, Martine ,
Weber-Lassalle, Nana,
Joly-Beauparlant, Charles,
Ernst, Corinna ,
Droit, Arnaud,
Feng, Bing-Jian,
Dubois, Stéphane,
Collin-Deschesnes, Annie-Claude,
Soucy, Penny,
Vallée, Maxime,
Fournier, Frédéric,
Lemaçon, Audrey,
Adank, Muriel A.,
Allen, Jamie,
Altmüller, Janine,
Arnold, Norbert ,
Ausems, Margreet G. E. M. ,
Berutti, Riccardo,
Bolla, Manjeet K.,
Bull, Shelley ,
Carvalho, Sara,
Cornelissen, Sten,
Dufault, Michael R. ,
Dunning, Alison M.,
Engel, Christoph ,
Gehrig, Andrea,
Geurts-Giele, Willemina R. R.,
Gieger, Christian,
Green, Jessica,
Hackmann, Karl,
Helmy, Mohamed,
Hentschel, Julia,
Hogervorst, Frans B. L.,
Hollestelle, Antoinette,
Hooning, Maartje J.,
Horváth, Judit,
Ikram, M. Arfan,
Kaulfuß, Silke ,
Keeman, Renske,
Kuang, Da,
Luccarini, Craig,
Maier, Wolfgang,
Martens, John W. M. ,
Niederacher, Dieter,
Nürnberg, Peter ,
Ott, Claus-Eric ,
Peters, Annette ,
Pharoah, Paul D. P.,
Ramirez, Alfredo ,
Ramser, Juliane,
Riedel-Heller, Steffi,
Schmidt, Gunnar ,
Shah, Mitul,
Scherer, Martin,
Stäbler, Antje,
Strom, Tim M.,
Sutter, Christian,
Thiele, Holger,
van Asperen, Christi J.,
van der Kolk, Lizet,
van der Luijt, Rob B.,
Volk, Alexander E.,
Wagner, Michael ,
Waisfisz, Quinten,
Wang, Qin,
Wang-Gohrke, Shan,
Weber, Bernhard H. F. ,
Devilee, Peter ,
Tavtigian, Sean,
Bader, Gary D. ,
Meindl, Alfons,
Goldgar, David E.,
Andrulis, Irene L.,
Schmutzler, Rita K.,
Easton, Douglas F.,
Schmidt, Marjanka K. ,
Hahnen, Eric und
Simard, Jacques
(2022)
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Cancers 14 (14), S. 3363.
Volltext nicht vorhanden.
2021
Khuller, Katharina,
Yigit, Gökhan,
Martínez Grijalva, Carolina,
Altmüller, Janine,
Thiele, Holger,
Nürnberg, Peter,
Elcioglu, Nursel H.,
Yeter, Burcu,
Hehr, Ute,
Stein, Anja,
Della Marina, Adela,
Köninger, Angela,
Depienne, Christel,
Kaiser, Frank J.,
Wollnik, Bernd und
Kuechler, Alma
(2021)
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
European Journal of Medical Genetics 64 (10), S. 104310.
Volltext nicht vorhanden.
Kargapolova, Yulia ,
Rehimi, Rizwan,
Kayserili, Hülya ,
Brühl, Joanna,
Sofiadis, Konstantinos,
Zirkel, Anne,
Palikyras, Spiros,
Mizi, Athanasia,
Li, Yun,
Yigit, Gökhan ,
Hoischen, Alexander ,
Frank, Stefan,
Russ, Nicole,
Trautwein, Jonathan,
van Bon, Bregje,
Gilissen, Christian ,
Laugsch, Magdalena,
Gusmao, Eduardo Gade,
Josipovic, Natasa ,
Altmüller, Janine,
Nürnberg, Peter,
Längst, Gernot,
Kaiser, Frank J.,
Watrin, Erwan,
Brunner, Han,
Rada-Iglesias, Alvaro ,
Kurian, Leo ,
Wollnik, Bernd ,
Bouazoune, Karim und
Papantonis, Argyris
(2021)
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
Nature Communications 12 (1).
Volltext nicht vorhanden.
2019
Grassmann, Felix ,
Harsch, Sebastian,
Brandl, Caroline ,
Kiel, Christina,
Nürnberg, Peter,
Toliat, Mohammad R.,
Fleckenstein, Monika,
Pfau, Maximilian,
Schmitz-Valckenberg, Steffen,
Holz, Frank G.,
Chew, Emily Y.,
Swaroop, Anand,
Ratnapriya, Rinki ,
Klein, Michael L.,
Mulyukov, Zufar,
Zamiri, Parisa und
Weber, Bernhard H. F.
(2019)
Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration.
JAMA Ophthalmology 137 (8), S. 867.
Volltext nicht vorhanden.
2018
Hauke, Jan,
Horvath, Judit,
Groß, Eva,
Gehrig, Andrea,
Honisch, Ellen,
Hackmann, Karl,
Schmidt, Gunnar,
Arnold, Norbert ,
Faust, Ulrike,
Sutter, Christian,
Hentschel, Julia,
Wang-Gohrke, Shan,
Smogavec, Mateja,
Weber, Bernhard H. F.,
Weber-Lassalle, Nana,
Weber-Lassalle, Konstantin,
Borde, Julika,
Ernst, Corinna,
Altmüller, Janine,
Volk, Alexander E.,
Thiele, Holger,
Hübbel, Verena,
Nürnberg, Peter,
Keupp, Katharina,
Versmold, Beatrix,
Pohl, Esther,
Kubisch, Christian ,
Grill, Sabine,
Paul, Victoria,
Herold, Natalie,
Lichey, Nadine,
Rhiem, Kerstin,
Ditsch, Nina,
Ruckert, Christian ,
Wappenschmidt, Barbara,
Auber, Bernd,
Rump, Andreas,
Niederacher, Dieter,
Haaf, Thomas,
Ramser, Juliane,
Dworniczak, Bernd,
Engel, Christoph ,
Meindl, Alfons,
Schmutzler, Rita K. und
Hahnen, Eric
(2018)
Gene panel testing of 5589 BRCA1/2 -negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Cancer Medicine 7 (4), S. 1349-1358.
Volltext nicht vorhanden.
2016
Li, Man ,
Li, Yong ,
Weeks, Olivia,
Mijatovic, Vladan,
Teumer, Alexander,
Huffman, Jennifer E.,
Tromp, Gerard ,
Fuchsberger, Christian,
Gorski, Mathias,
Lyytikäinen, Leo-Pekka,
Nutile, Teresa,
Sedaghat, Sanaz,
Sorice, Rossella,
Tin, Adrienne,
Yang, Qiong,
Ahluwalia, Tarunveer S.,
Arking, Dan E.,
Bihlmeyer, Nathan A. ,
Böger, Carsten A.,
Carroll, Robert J.,
Chasman, Daniel I.,
Cornelis, Marilyn C.,
Dehghan, Abbas,
Faul, Jessica D. ,
Feitosa, Mary F. ,
Gambaro, Giovanni,
Gasparini, Paolo,
Giulianini, Franco,
Heid, Iris,
Huang, Jinyan,
Imboden, Medea,
Jackson, Anne U.,
Jeff, Janina,
Jhun, Min A.,
Katz, Ronit,
Kifley, Annette,
Kilpeläinen, Tuomas O. ,
Kumar, Ashish,
Laakso, Markku,
Li-Gao, Ruifang,
Lohman, Kurt,
Lu, Yingchang,
Mägi, Reedik,
Malerba, Giovanni,
Mihailov, Evelin,
Mohlke, Karen L.,
Mook-Kanamori, Dennis O.,
Robino, Antonietta,
Ruderfer, Douglas,
Salvi, Erika,
Schick, Ursula M.,
Schulz, Christina-Alexandra,
Smith, Albert V. ,
Smith, Jennifer A. ,
Traglia, Michela,
Yerges-Armstrong, Laura M.,
Zhao, Wei,
Goodarzi, Mark O.,
Kraja, Aldi T.,
Liu, Chunyu,
Wessel, Jennifer ,
Boerwinkle, Eric,
Borecki, Ingrid B.,
Bork-Jensen, Jette,
Bottinger, Erwin P.,
Braga, Daniele,
Brandslund, Ivan,
Brody, Jennifer A.,
Campbell, Archie,
Carey, David J.,
Christensen, Cramer,
Coresh, Josef,
Crook, Errol,
Curhan, Gary C.,
Cusi, Daniele,
de Boer, Ian H.,
de Vries, Aiko P. J. ,
Denny, Joshua C.,
Devuyst, Olivier,
Dreisbach, Albert W.,
Endlich, Karlhans ,
Esko, Tõnu,
Franco, Oscar H. ,
Fulop, Tibor,
Gerhard, Glenn S.,
Glümer, Charlotte,
Gottesman, Omri,
Grarup, Niels ,
Gudnason, Vilmundur,
Hansen, Torben,
Harris, Tamara B.,
Hayward, Caroline,
Hocking, Lynne,
Hofman, Albert,
Hu, Frank B.,
Husemoen, Lise Lotte N.,
Jackson, Rebecca D.,
Jørgensen, Torben ,
Jørgensen, Marit E. ,
Kähönen, Mika,
Kardia, Sharon L. R.,
König, Wolfgang,
Kooperberg, Charles,
Kriebel, Jennifer ,
Launer, Lenore J.,
Lauritzen, Torsten,
Lehtimäki, Terho,
Levy, Daniel,
Linksted, Pamela,
Linneberg, Allan,
Liu, Yongmei,
Loos, Ruth J. F. ,
Lupo, Antonio,
Meisinger, Christine,
Melander, Olle,
Metspalu, Andres,
Mitchell, Paul,
Nauck, Matthias,
Nürnberg, Peter,
Orho-Melander, Marju,
Parsa, Afshin,
Pedersen, Oluf ,
Peters, Annette ,
Peters, Ulrike ,
Polasek, Ozren ,
Porteous, David,
Probst-Hensch, Nicole M.,
Psaty, Bruce M.,
Qi, Lu,
Raitakari, Olli T.,
Reiner, Alex P.,
Rettig, Rainer,
Ridker, Paul M.,
Rivadeneira, Fernando,
Rossouw, Jacques E.,
Schmidt, Frank,
Siscovick, David,
Soranzo, Nicole,
Strauch, Konstantin,
Toniolo, Daniela,
Turner, Stephen T.,
Uitterlinden, André G.,
Ulivi, Sheila,
Velayutham, Dinesh,
Völker, Uwe,
Völzke, Henry,
Waldenberger, Melanie ,
Wang, Jie Jin,
Weir, David R.,
Witte, Daniel ,
Kuivaniemi, Helena ,
Fox, Caroline S.,
Franceschini, Nora,
Goessling, Wolfram,
Köttgen, Anna und
Chu, Audrey Y.
(2016)
SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.
Journal of the American Society of Nephrology 28 (3), S. 981-994.
Volltext nicht vorhanden.
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