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

Title: Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Authors: Braun, Daniela AAff1; Rao, JiaAff1; Mollet, GeraldineAff2, Aff3; Schapiro, DavidAff1; Daugeron, Marie-ClaireAff4; Tan, WeizhenAff1; Gribouval, OlivierAff2, Aff3; Boyer, OliviaAff2, Aff3, Aff5; Revy, PatrickAff3, Aff6; Jobst-Schwan, TilmanAff1; Schmidt, Johanna MagdalenaAff1; Lawson, Jennifer AAff1; Schanze, DennyAff7; Ashraf, ShaziaAff1; Ullmann, Jeremy F PAff8, Aff9; Hoogstraten, Charlotte AAff1; Boddaert, NathalieAff3, Aff10, Aff11; Collinet, BrunoAff4, Aff12, Aff13; Martin, GaëlleAff2, Aff3; Liger, DominiqueAff4; Lovric, SvjetlanaAff1; Furlano, MonicaAff2, Aff3, Aff14; Guerrera, I ChiaraAff15; Sanchez-Ferras, OralyAff16; Hu, Jennifer FAff17; Boschat, Anne-ClaireAff18; Sanquer, SylviaAff19, Aff20; Menten, BjörnAff21; Vergult, SarahAff21; De Rocker, NinaAff21; Airik, MerlinAff1; Hermle, TobiasAff1; Shril, ShirleeAff1; Widmeier, EugenAff1, Aff22; Gee, Heon YungAff1, Aff23; Choi, Won-IlAff1; Sadowski, Carolin EAff1; Pabst, Werner LAff1; Warejko, Jillian KAff1; Daga, AnkanaAff1; Basta, TamaraAff4; Matejas, VerenaAff24; Scharmann, KarinAff25, Aff26; Kienast, Sandra DAff25, Aff26; Behnam, BabakAff27, Aff28; Beeson, BrendanAff29; Begtrup, AmberAff30; Bruce, MalcolmAff29; Ch'ng, Gaik-SiewAff31; Lin, Shuan-PeiAff32, Aff33; Chang, Jui-HsingAff34; Chen, Chao-HueiAff35; Cho, Megan TAff30; Gaffney, Patrick MAff36; Gipson, Patrick EAff37; Hsu, Chyong-HsinAff34; Kari, Jameela AAff38; Ke, Yu-YuanAff35; Kiraly-Borri, CathyAff39; Lai, Wai-mingAff40; Lemyre, EmmanuelleAff41; Littlejohn, Rebecca OkashahAff42, Aff43; Masri, AmiraAff44; Moghtaderi, MastanehAff45; Nakamura, KazuyukiAff46; Ozaltin, FatihAff47, Aff48, Aff49; Praet, MarleenAff50; Prasad, ChitraAff51; Prytula, AgnieszkaAff52; Roeder, Elizabeth RAff42, Aff43; Rump, PatrickAff53; Schnur, Rhonda EAff30; Shiihara, TakashiAff46; Sinha, Manish DAff54; Soliman, Neveen AAff55, Aff56; Soulami, KenzaAff57; Sweetser, David AAff58; Tsai, Wen-HuiAff59; Tsai, Jeng-DawAff33, Aff34, Aff60, Aff61; Topaloglu, RezanAff47; Vester, UdoAff62; Viskochil, David HAff63; Vatanavicharn, NithiwatAff64; Waxler, Jessica LAff58; Wierenga, Klaas JAff65; Wolf, Matthias T FAff66; Wong, Sik-NinAff67; Leidel, Sebastian AAff25, Aff26, Aff68; Truglio, GessicaAff8; Dedon, Peter CAff69, Aff70; Poduri, AnnapurnaAff8, Aff9; Mane, ShrikantAff71; Lifton, Richard PAff71, Aff72; Bouchard, MaximeAff16; Kannu, PeterAff73; Chitayat, DavidAff73; Magen, DaniellaAff74; Callewaert, BertAff21; van Tilbeurgh, HermanAff4; Zenker, MartinAff7, IDng3933_cor1; Antignac, CorinneAff2, Aff3, Aff75, IDng3933_cor2; Hildebrandt, FriedhelmAff1, IDng3933_cor3
Source: Nature Genetics. 49(10):1529-1538
Database: Springer Nature Journals