topic

  • Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility
    Robbert D A Weren, Rachel S van der Post, Ingrid P Vogelaar, J Han van Krieken, Liesbeth Spruijt, Jan Lubinski, Anna Jakubowska, Urszula Teodorczyk, Cora M Aalfs, Liselotte P van Hest, Carla Oliveira, Eveline J Kamping, Hans K Schackert, Guglielmina N Ranzani, Encarna B Gómez García, Frederik J Hes, Elke Holinski-Feder, Maurizio Genuardi, Margreet G E M Ausems, Rolf H Sijmons, Anja Wagner, Lizet E van der Kolk, Annemieke Cats, Inga Bjørnevoll, Nicoline Hoogerbrugge, Marjolijn J L Ligtenberg
  • Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)
    Kun Wang, Sen Zhao, Bowen Liu, Qianqian Zhang, Yaqi Li, Jiaqi Liu, Yan Shen, Xinghuan Ding, Jiachen Lin, Yong Wu, Zihui Yan, Jia Chen, Xiaoxin Li, Xiaofei Song, Yuchen Niu, Jian Liu, Weisheng Chen, Yue Ming, Renqian Du, Cong Chen, Bo Long, Yisen Zhang, Xiangjun Tong, Shuyang Zhang, Jennifer E Posey, Bo Zhang, Zhihong Wu, Joshua D Wythe, Pengfei Liu, James R Lupski, Xinjian Yang, Nan Wu
  • Fine mapping MHC associations in Graves’ disease and its clinical subtypes in Han Chinese
    Xun Chu, Minjun Yang, Zhen-Ju Song, Yan Dong, Chong Li, Min Shen, Yong-Qiang Zhu, Huai-Dong Song, Sai-Juan Chen, Zhu Chen, Wei Huang
  • Mutations in IRS4 are associated with central hypothyroidism
    Charlotte A Heinen, Emmely M de Vries, Mariëlle Alders, Hennie Bikker, Nitash Zwaveling-Soonawala, Erica L T van den Akker, Boudewijn Bakker, Gera Hoorweg-Nijman, Ferdinand Roelfsema, Raoul C Hennekam, Anita Boelen, A S Paul van Trotsenburg, Eric Fliers
  • Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap
    Jeanna M McCuaig, Tracy L Stockley, Patricia Shaw, Michael Fung-Kee-Fung, Alon D Altman, James Bentley, Marcus Q Bernardini, Beatrice Cormier, Hal Hirte, Katharina Kieser, Andree MacMillan, Wendy S Meschino, Karen Panabaker, Renee Perrier, Diane Provencher, Kasmintan A Schrader, Kimberly Serfas, Eva Tomiak, Nora Wong, Sean S Young, Walter Henri Gotlieb, Paul Hoskins, Raymond H Kim
  • Genetic obesity: next-generation sequencing results of 1230 patients with obesity
    Lotte Kleinendorst, Maarten P G Massink, Mellody I Cooiman, Mesut Savas, Olga H van der Baan-Slootweg, Roosje J Roelants, Ignace C M Janssen, Hanne J Meijers-Heijboer, Nine V A M Knoers, Hans Kristian Ploos van Amstel, Elisabeth F C van Rossum, Erica L T van den Akker, Gijs van Haaften, Bert van der Zwaag, Mieke M van Haelst
  • Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses
    Laura Addis, William Sproviero, Sanjeev V Thomas, Roberto H Caraballo, Stephen J Newhouse, Kumudini Gomez, Elaine Hughes, Maria Kinali, David McCormick, Siobhan Hannan, Silvia Cossu, Jacqueline Taylor, Cigdem I Akman, Steven M Wolf, David E Mandelbaum, Rajesh Gupta, Rick A van der Spek, Dario Pruna, Deb K Pal
  • XRCC2 mutation causes meiotic arrest, azoospermia and infertility
    Yongjia Yang, Jihong Guo, Lei Dai, Yimin Zhu, Hao Hu, Lihong Tan, Weijian Chen, Desheng Liang, Jingliang He, Ming Tu, Kewei Wang, Lingqian Wu
  • Genetics of neuromuscular fetal akinesia in the genomics era
    Sarah Jane Beecroft, Marcus Lombard, David Mowat, Catriona McLean, Anita Cairns, Mark Davis, Nigel G Laing, Gianina Ravenscroft
  • Retrospective natural history of thymidine kinase 2 deficiency
    Caterina Garone, Robert W Taylor, Andrés Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez-González, Julie C Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M Imelda Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez Gomez, Sandeep Jayawant, Neil D Thomas, Adnan Y Manzur, Karin Kleinsteuber, Miguel A Martin, Timothy Kerr, Grainne S Gorman, Ewen W Sommerville, Patrick F Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga-Garrido, Jana Domínguez-Carral, Carlos Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua F Kriger, Robert Schoenaker, Bruce Levin, John L P Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano

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