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

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 ; 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 ; Poduri, Annapurna ; Mane, Shrikant ; Lifton, Richard P ; Bouchard, Maxime ; Kannu, Peter ; Chitayat, David ; Magen, Daniella ; Callewaert, Bert ; Tilbeurgh, Herman van ; Zenker, Martin ; Antignac, Corinne ; Hildebrandt, Friedhelm ; Braun, Daniela A ; Rao, Jia; Serre, Marie-Claude (Editor)

Nature Genetics, 2017 [Tạp chí có phản biện]

ISSN: 1061-4036 ; E-ISSN: 1546-1718 ; DOI: 10.1038/ng.3933

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