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British Journal of Haematology, ISSN 0007-1048, 09/2008, Volume 142, Issue 6, pp. 859 - 876
Journal Article
British Journal of Haematology, ISSN 0007-1048, 09/2014, Volume 166, Issue 6, pp. 949 - 951
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 86, Issue 4, pp. 596 - 603
Journal Article
by Antoniou, Antonis C and Kartsonaki, Christiana and Sinilnikova, Olga M and Soucy, Penny and McGuffog, Lesley and Healey, Sue and Lee, Anew and Peterlongo, Paolo and Manoukian, Siranoush and Peissel, Bernard and Zaffaroni, Daniela and Cattaneo, Elisa and Barile, Monica and Pensotti, Valeria and Pasini, Barbara and Dolcetti, Riccardo and Giannini, Giuseppe and Putignano, Anna Laura and Varesco, Liliana and Radice, Paolo and Mai, Phuong L and Greene, Mark H and Anulis, Irene L and Glendon, Gord and Ozcelik, Hilmi and Thomassen, Mads and Gerdes, Anne-Marie and Kruse, Torben A and Birk Jensen, Uffe and Crüger, Dorthe G and Caligo, Maria A and Laitman, Yael and Milgrom, Roni and Kaufman, Bella and Paluch-Shimon, Shani and Friedman, Eitan and Loman, Niklas and Harbst, Katja and Lindblom, Annika and Arver, Brita and Ehrencrona, Hans and Melin, Beatrice and Nathanson, Katherine L and Domchek, Susan M and Rebbeck, Timothy and Jakubowska, Ania and Lubinski, Jan and Gronwald, Jacek and Huzarski, Tomasz and Byrski, Tomasz and Cybulski, Cezary and Gorski, Bohdan and Osorio, Ana and Ramón Y Cajal, Teresa and Fostira, Florentia and Anés, Raquel and Benitez, Javier and Hamann, Ute and Hogervorst, Frans B and Rookus, Matti A and Hooning, Maartje J and Nelen, Marcel R and van der Luijt, Rob B and van Os, Theo A. M and van Asperen, Christi J and Devilee, Peter and Meijers-Heijboer, Hanne E. J and Gómez Garcia, Encarna B and Peock, Susan and Cook, Margaret and Frost, Debra and Platte, Radka and Leyland, Jean and Evans, D. Gareth and Lalloo, Fiona and Eeles, Ros and Izatt, Louise and Adlard, Julian and Davidson, Rosemarie and Eccles, Diana and Ong, Kai-Ren and Cook, Jackie and Douglas, Fiona and Paterson, Joan and Kennedy, M. John and Miedzybrodzka, Zosia and Godwin, Anew and Stoppa-Lyonnet, Dominique and Buecher, Bruno and Belotti, Muriel and Tirapo, Carole and Mazoyer, Sylvie and Barjhoux, Laure and Lasset, Christine and Leroux, Dominique and Faivre, Laurence and Bronner, Myriam and Prieur, Fabienne and Nogues, Catherine and Rouleau, Etienne and ... and kConFab Investigators and EMBRACE and CEMO Study Collaborators and CIMBA and HEBON and Breast Canc Family Registry and SWE-BRCA and Breast Cancer Family Registry and kConFab investigators and on behalf of CIMBA and Medicinska fakulteten and Institutionen för strålningsvetenskaper and Onkologi and Umeå universitet
Human molecular genetics, ISSN 0964-6906, 2011, Volume 20, Issue 16, pp. 3304 - 3321
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2015, Volume 23, Issue 12, p. 1679
Familial visceral myopathy (FVM) is a rare heritable and heterogeneous condition due to impaired smooth muscle function. We identified a family segregating 11... 
Genetik | Biological Sciences | Naturvetenskap | Biologiska vetenskaper | Genetics | Natural Sciences
Journal Article
by Kirchhoff, Tomas and Gaudet, Mia M and Antoniou, Antonis C and McGuffog, Lesley and Humphreys, Manjeet K and Dunning, Alison M and Bojesen, Stig E and Nordestgaard, Børge G and Flyger, Henrik and Kang, Daehee and Yoo, Keun-Young and Noh, Dong-Young and Ahn, Sei-Hyun and Dork, Thilo and Schürmann, Peter and Karstens, Johann H and Hillemanns, Peter and Couch, Fergus J and Olson, Janet and Vachon, Celine and Wang, Xianshu and Cox, Angela and Brock, Ian and Elliott, Graeme and Reed, Malcolm W. R and Burwinkel, Barbara and Meindl, Alfons and Brauch, Hiltrud and Hamann, Ute and Ko, Yon-Dschun and Broeks, Annegien and Schmidt, Marjanka K and van 't Veer, Laura J and Braaf, Linde M and Johnson, Nichola and Fletcher, Olivia and Gibson, Lorna and Peto, Julian and Turnbull, Clare and Seal, Sheila and Renwick, Anthony and Rahman, Nazneen and Wu, Pei-Ei and Yu, Jyh-Cherng and Hsiung, Chia-Ni and Shen, Chen-Yang and Southey, Melissa C and Hopper, John L and Hammet, Fleur and van Dorpe, Thijs and Dieudonne, Anne-Sophie and Hatse, Sigrid and Lambrechts, Diether and Anulis, Irene L and Bogdanova, Natalia and Antonenkova, Natalia and Rogov, Juri I and Prokofieva, Daria and Bermisheva, Marina and Khusnutdinova, Elza and van Asperen, Christi J and Tollenaar, Robert A. E. M and Hooning, Maartje J and Devilee, Peter and Margolin, Sara and Lindblom, Annika and Milne, Roger L and Arias, José Ignacio and Zamora, M. Pilar and Benítez, Javier and Severi, Gianluca and Baglietto, Laura and Giles, Graham G and Spurdle, Amanda B and Beesley, Jonathan and Chen, Xiaoqing and Holland, Helene and Healey, Sue and Wang-Gohrke, Shan and Chang-Claude, Jenny and Mannermaa, Arto and Kosma, Veli-Matti and Kauppinen, Jaana and Kataja, Vesa and Agnarsson, Bjarni A and Caligo, Maria A and Godwin, Anew K and Nevanlinna, Heli and Heikkinen, Tuomas and Fredericksen, Zachary and Lindor, Noralane and Nathanson, Katherine L and Domchek, Susan M and Loman, Niklas and Karlsson, Per and Stenmark Askmalm, Marie and Melin, Beatrice and von Wachenfeldt, Anna and Hogervorst, Frans B. L and Verheus, Martijn and ... and EMBRACE and BCAC-CIMBA and HEBON and kConFab and GENICA Network and AOCS Study Grp and SWE-BRCA and AOCS Study Group and BCAC/CIMBA and on behalf of BCAC/CIMBA and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Diagnostikcentrum and Klinisk patologi och klinisk genetik and Östergötlands Läns Landsting and Onkologi and Hälsouniversitetet
PLoS ONE, ISSN 1932-6203, 2012, Volume 7, Issue 6, pp. e35706 - e35706
Journal Article
by Wang, Sheng and Mandell, Jeffrey D and Kumar, Yogesh and Sun, Nawei and Morris, Montana T and Arbelaez, Juan and Nasello, Cara and Dong, Shan and Duhn, Clif and Zhao, Xin and Yang, Zhiyu and Padmanabhuni, Shanmukha S and Yu, Dongmei and King, Robert A and Dietrich, Andrea and Khalifa, Najah and Dahl, Niklas and Huang, Alden Y and Neale, Benjamin M and Coppola, Giovanni and Mathews, Carol A and Scharf, Jeremiah M and Abdulkadir, Mohamed and Bodmer, Benjamin and Bromberg, Yana and Brown, Lawrence W and Cheon, Keun-Ah and Coffey, Barbara J and Deng, Li and Elzerman, Lonneke and Fernandez, Thomas V and Fremer, Carolin and Garcia-Delgar, Blanca and Gilbert, Donald L and Grice, Dorothy E and Hagstrøm, Julie and Hedderly, Tammy and Heiman, Gary A and Heyman, Isobel and Hoekstra, Pieter J and Hong, Hyun Ju and Huyser, Chaim and Kim, Eun-Joo and Kim, Young-Shin and Kim, Young Key and Koh, Yun-Joo and Kook, Sodahm and Kuperman, Samuel and Leventhal, Bennett L and Ludolph, Andrea G and Madruga-Garrido, Marcos and Maras, Athanasios and Mir, Pablo and Morer, Astrid and Müller-Vahl, Kirsten and Münchau, Alexander and Murphy, Tara L and Plessen, Kerstin J and Poisner, Hannah and Roessner, Veit and Sanders, Stephan J and Shin, Eun-Young and Song, Jungeun and Song, Dong-Ho and State, Matthew W and Thackray, Joshua K and Tischfield, Jay A and Tübing, Jennifer and Visscher, Frank and Wanderer, Sina and Willsey, A. Jeremy and Willsey, A Jeremy and Woods, Martin and Xing, Jinchuan and Zhang, Yeting and Zinner, Samuel H and Androutsos, Christos and Barta, Csaba and Farkas, Luca and Fichna, Jakub and Georgitsi, Marianthi and Janik, Piotr and Karagiannidis, Iordanis and Koumoula, Anastasia and Nagy, Peter and Paschou, Peristera and Puchala, Joanna and Rizzo, Renata and Szejko, Natalia and Szymanska, Urszula and Tarnok, Zsanett and Tsironi, Vaia and Wolanczyk, Tomasz and Zekanowski, Cezary and Barr, Cathy L and Batterson, James R and Berlin, Cheston and Bruun, Ruth D and Budman, Cathy L and Cath, Danielle C and ... and Tourette Int Collaborative and Tourette Syndrome Genetics and TAAICG and Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE) and Tourette International Collaborative Genetics Study (TIC Genetics) and Tourette Association of America International Consortium for Genetics (TAAICG) and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm and Barn- och ungdomspsykiatri and Medicinsk genetik och genomik and Uppsala universitet and Centrum för klinisk forskning, Gävleborg and Institutionen för neurovetenskap
Cell Reports, ISSN 2211-1247, 09/2018, Volume 24, Issue 13, pp. 3441 - 3454.e12
Journal Article