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Neurology, ISSN 0028-3878, 06/2009, Volume 72, Issue 24, p. 2136
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2015, Volume 47, Issue 7, pp. 803 - 808
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2018, Volume 20, Issue 1, pp. 98 - 108
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 6, pp. 762 - 767
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 10/2005, Volume 26, Issue 4, pp. 397 - 397
Germline mutations of the TBX5 gene were identified as the primary cause in up to 70% of patients with Holt‐Oram syndrome (HOS), an autosomal dominant disorder... 
TBX5 | mutation database | HOS | Holt‐Oram syndrome | congenital heart defect | Phenotype | Humans | Databases, Genetic | Molecular Sequence Data | Models, Genetic | Mutation | T-Box Domain Proteins - genetics
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 2014, Volume 15, Issue 1, p. 127
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2016, Volume 170, Issue 10, pp. 2644 - 2651
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2012, Volume 49, Issue 8, pp. 525 - 532
Journal Article
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