Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly
Geraldine Mollet,Marie-Claire Daugeron,Weizhen Tan, Olivier, Gribouval,Olivia Boyer,Patrick Revy,Tilman Jobst-Schwan,Johanna Magdalena Schmidt,Jennifer A Lawson,Denny Schanze,Shazia Ashraf,Charlotte A Hoogstraten,Nathalie Boddaert, Bruno, Collinet,Dominique Liger,Svjetlana Lovric,Monica Furlano, Oraly, Sanchez-Ferras,Anne-Claire Boschat,Sylvia Sanquer,Björn Menten,Sarah Vergult,Nina De, Rocker,Merlin Airik,Tobias Hermle,Shirlee Shril,Eugen Widmeier,Heon Yung Gee,Won-Il Choi, E Carolin, Sadowski,Werner L Pabst,Jillian K Warejko,Ankana Daga,Tamara Basta,Verena Matejas,Karin Scharmann,Sandra D Kienast,Babak Behnam, Brendan Beeson,Amber Begtrup,Jui-Hsing Chang,Chao-Huei Chen,Megan T Cho,Patrick M Gaffney,Patrick E Gipson,Chyong-Hsin Hsu,Cathy Kiraly-Borri,Wai-Ming Lai,Rebecca Okashah Littlejohn,Amira Masri,Mastaneh Moghtaderi,Kazuyuki Nakamura,Fatih Ozaltin,Marleen Praet,Agnieszka Prytula,Elizabeth R Roeder,Rhonda E Schnur,Takashi Shiihara,Manish D Sinha,Neveen A Soliman,Kenza Soulami,David A Sweetser,Udo Vester,Nithiwat Vatanavicharn,Jessica L Waxler, J Klaas, Wierenga,Sik-Nin Wong, Annapurna, Poduri,Shrikant Mane,Peter Kannu,Bert Callewaert,Friedhelm Hildebrandt
semanticscholar（2018）
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