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    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome von Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.

    Veröffentlicht in Nature genetics

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    Body composition and lung cancer-associated cachexia in TRACERx von Al-Sawaf, Othman, Weiss, Jakob, Skrzypski, Marcin, Lam, Jie Min, Karasaki, Takahiro, Zambrana, Francisco, Kidd, Andrew C, Frankell, Alexander M, Watkins, Thomas B.K, Martinez-Ruiz, Carlos, Puttick, Clare, Black, James R.M, Huebner, Ariana, Al Bakir, Maise, Sokac, Mateo, Collins, Susie, Veeriah, Selvaraju, Magno, Neil, Naceur-Lombardelli, Cristina, Prymas, Paulina, Toncheva, Antonia, Ward, Sophia, Jayanth, Nick, Salgado, Roberto, Bridge, Christopher P, Christiani, David C, Mak, Raymond H, Bay, Camden, Rosenthal, Michael, Sattar, Naveed, Welsh, Paul, Liu, Ying, Perrimon, Norbert, Popuri, Karteek, Beg, Mirza Faisal, McGranahan, Nicholas, Hackshaw, Allan, Breen, Danna M, O'Rahilly, Stephen, Birkbak, Nicolai J, Aerts, Hugo J.W.L, Jamal-Hanjani, Mariam, Swanton, Charles, Lester, Jason F, Bajaj, Amrita, Nakas, Apostolos, Sodha-Ramdeen, Azmina, Ang, Keng, Tufail, Mohamad, Chowdhry, Mohammed Fiyaz, Scotland, Molly, Boyles, Rebecca, Rathinam, Sridhar, Wilson, Claire, Marrone, Domenic, Dulloo, Sean, Fennell, Dean A, Matharu, Gurdeep, Shaw, Jacqui A, Riley, Joan, Primrose, Lindsay, Boleti, Ekaterini, Cheyne, Heather, Khalil, Mohammed, Richardson, Shirley, Cruickshank, Tracey, Price, Gillian, Kerr, Keith M, Benafif, Sarah, Gilbert, Kayleigh, Naidu, Babu, Patel, Akshay J, Osman, Aya, Lacson, Christer, Langman, Gerald, Shackleford, Helen, Djearaman, Madava, Kadiri, Salma, Middleton, Gary, Leek, Angela, Hodgkinson, Jack Davies, Totten, Nicola, Montero, Angeles, Smith, Elaine, Fontaine, Eustace, Granato, Felice, Doran, Helen, Novasio, Juliette, Rammohan, Kendadai, Joseph, Leena, Bishop, Paul, Shah, Rajesh, Moss, Stuart, Joshi, Vijay, Crosbie, Philip, Gomes, Fabio, Brown, Kate, Carter, Mathew, Chaturvedi, Anshuman, Priest, Lynsey

    Veröffentlicht in NATURE MEDICINE

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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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