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    SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome von Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, Singh, Sylvia S, Patel, Nirav, Jing, Jenny W, Law, Jennifer R, Ferraro, Nalton, Verloes, Alain, Rauch, Anita, Steindl, Katharina, Zweier, Markus, Scheer, Ianina, Sato, Daisuke, Okamoto, Nobuhiko, Jacobsen, Christina, Tryggestad, Jeanie, Chernausek, Steven, Schimmenti, Lisa A, Brasseur, Benjamin, Cesaretti, Claudia, García-Ortiz, Jose E, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Hoffman, Jodi D, Mühlbauer, Wolfgang, Ruprecht, Klaus W, Loeys, Bart L, Shino, Masato, Kaindl, Angela M, Cho, Chie-Hee, Morton, Cynthia C, Meehan, Richard R, van Heyningen, Veronica, Liao, Eric C, Balasubramanian, Ravikumar, Hall, Janet E, Seminara, Stephanie B, Macarthur, Daniel, Moore, Steven A, Yoshiura, Koh-ichiro, Gusella, James F, Marsh, Joseph A, Graham, John M, Lin, Angela E, Katsanis, Nicholas, Jones, Peter L, Crowley, William F, Davis, Erica E, FitzPatrick, David R, Talkowski, Michael E

    Veröffentlicht in Nature genetics

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    SMIM1 absence is associated with reduced energy expenditure and excess weight von Stefanucci, Luca, Kwa, Jing E., Burden, Frances, Dinh, Khoa Manh, Geller, Frank, Kogelman, Lisette, Hørup Larsen, Margit Anita, Lundgaard, Agnete, Schwinn, Michael, Sørensen, Erik, Willems, Sara M., Boutin, Thibaud S., Katie Chan, Kei Hang, Moreno-Macias, Hortensia, North, Kari E., Ray, Debashree, Schurmann, Claudia, Southam, Loz, Cade, Brian E., Chai, Jin Fang, Chai, Xiaoran, Chitrala, Kumaraswamy Naidu, Chiu, Yen-Feng, Lai, Shuiqing, Langefeld, Carl D., Lauzon, Marie, Li, Man, Ligthart, Symen, Noce, Damia, Rich, Stephen S., Robertson, Neil R., Sanna, Serena, Setoh, Kazuya, van der Most, Peter J., Arzumanyan, Zorayr, Astrup, Arne, Bonnycastle, Lori L., Cai, Qiuyin, Hsieh, Chang-Hsun, Khor, Chiea Chuen, Kuulasmaa, Teemu, Läll, Kristi, Lee, Nanette R., Linneberg, Allan, Nadkarni, Girish N., Peters, Annette, Reilly, Dermot F., Sabanayagam, Charumathi, Shi, Jinxiu, van Hylckama Vlieg, Astrid, Aguilar-Salinas, Carlos Alberto, An, Ping, Becker, Diane M., Bisgaard, Hans, Boomsma, D.I., Cheng, Ching-Yu, Elmståhl, Sölve, Evans, Michele K., Ferrucci, Luigi, Guo, Xiuqing, Horta, Bernardo L., Jonas, Jost B., Kooner, Jaspal S., Kuh, Diana, Leander, Karin, Loos, Ruth J.F., O'Connell, Jeffrey R., Province, Michael A., Qi, Lu, Raffel, Leslie J., Sandhu, Manjinder, Schwarz, Peter, Scott, Laura J., Small, Kerrin S., Snieder, Harold, Stumvoll, Michael, Tabara, Yasuharu, Timpson, Nicholas J., Tuomilehto, Jaakko, Vitart, Veronique, Vollenweider, Peter, Walker, Mark, Watanabe, Richard M., Willemsen, Gonneke, Wong, Tien-Yin, Yokota, Mitsuhiro, Zeggini, Eleftheria, Gloyn, Anna L., McCarthy, Mark I., Mohlke, Karen L., Burling, Keith, Barker, Peter, Warner, James, Renhstrom, Karola, Erikstrup, Christian, Dziegiel, Morten H., Cho, Kelly, Bayraktar, Omer A., Olsson, Martin L., Frontini, Mattia

    Veröffentlicht in Med (New York, N.Y. : Online)

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