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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

by Braun, Daniela A, Rao, Jia, Mollet, Geraldine, Schapiro, David, Daugeron, Marie-Claire, Tan, Weizhen, Gribouval, Olivier, Boyer, Olivia, Revy, Patrick, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Schanze, Denny, Ashraf, Shazia, Ullmann, Jeremy F P, Hoogstraten, Charlotte A, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I Chiara, Sanchez-Ferras, Oraly, Hu, Jennifer F, Boschat, Anne-Claire, Sanquer, Sylvia, Menten, Björn, Vergult, Sarah, De Rocker, Nina, Airik, Merlin, Hermle, Tobias, Shril, Shirlee, Widmeier, Eugen, Gee, Heon Yung, Choi, Won-Il, Sadowski, Carolin E, Pabst, Werner L, Warejko, Jillian K, Daga, Ankana, Basta, Tamara, Matejas, Verena, Scharmann, Karin, Kienast, Sandra D, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T, Gaffney, Patrick M, Gipson, Patrick E, Hsu, Chyong-Hsin, Kari, Jameela A, Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-Ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okashah, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Ozaltin, Fatih, Praet, Marleen, Prasad, Chitra, Prytula, Agnieszka, Roeder, Elizabeth R, Rump, Patrick, Schnur, Rhonda E, Shiihara, Takashi, Sinha, Manish D, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A, Tsai, Wen-Hui, Tsai, Jeng-Daw, Topaloglu, Rezan, Vester, Udo, Viskochil, David H, Vatanavicharn, Nithiwat, Waxler, Jessica L, Wierenga, Klaas J, Wolf, Matthias T F, Wong, Sik-Nin, Leidel, Sebastian A, Truglio, Gessica, Dedon, Peter C, Mane, Shrikant, Lifton, Richard P, Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Callewaert, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm
Published in Nature genetics (01.10.2017)

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Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly

by Braun, Daniela A., Rao, Jia, Mollet, Geraldine, Schapiro, David, Daugeron, Marie-Claire, Tan, Weizhen, Gribouval, Olivier, Boyer, Olivia, Revy, Patrick, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Lawson, Jennifer A., Schanze, Denny, Ashraf, Shazia, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I. Chiara, Sanchez-Ferras, Oraly, Menten, Björn, Vergult, Sarah, De Rocker, Nina, Airik, Merlin, Hermle, Tobias, Shril, Shirlee, Widmeier, Eugen, Gee, Heon Yung, Choi, Won-Il, Sadowski, Carolin E., Pabst, Werner L., Warejko, Jillian, Daga, Ankana, LeBerre, Tamara Basta, Matejas, Verena, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T., Gipson, Patrick E., Hsu, Chyong-Hsin, Kari, Jameela A., Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okasha, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Praet, Marleen, Prasad, Chitra, Prytula, Agnieszka, Roeder, Elizabeth, Rump, Patrick, Schnur, Rhonda E., Shiihara, Takashi, Sinha, Manish, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A., Tsai, Wen-Hui, Tsai, Jeng-Daw, Vester, Udo, Viskochil, David H., Vatanavicharn, Nithiwat, Waxler, Jessica L., Wolf, Matthias T.F., Wong, Sik-Nin, Poduri, Annapurna, Truglio, Gessica, Mane, Shrikant, Lifton, Richard P., Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Calleweart, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm
Published in Nature genetics (14.08.2017)

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