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1 Ergebnisse
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Recessive nephrocerebellar syndrome on the Galloway-Mowat s..:
Jinks, Robert N.
;
Puffenberger, Erik G.
;
Baple, Emma
...
Brain. 138 (2015) 8 - p. 2173-2190 , 2015
Link:
https://doi.org/10.1093/brain/awv153
RT Journal T1
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations ofWDR73
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_brain_awv153&Exemplar=1&LAN=DE A1 Jinks, Robert N. A1 Puffenberger, Erik G. A1 Baple, Emma A1 Harding, Brian A1 Crino, Peter A1 Fogo, Agnes B. A1 Wenger, Olivia A1 Xin, Baozhong A1 Koehler, Alanna E. A1 McGlincy, Madeleine H. A1 Provencher, Margaret M. A1 Smith, Jeffrey D. A1 Tran, Linh A1 Al Turki, Saeed A1 Chioza, Barry A. A1 Cross, Harold A1 Harlalka, Gaurav V. A1 Hurles, Matthew E. A1 Maroofian, Reza A1 Heaps, Adam D. A1 Morton, Mary C. A1 Stempak, Lisa A1 Hildebrandt, Friedhelm A1 Sadowski, Carolin E. A1 Zaritsky, Joshua A1 Campellone, Kenneth A1 Morton, D. Holmes A1 Wang, Heng A1 Crosby, Andrew A1 Strauss, Kevin A. PB Oxford University Press (OUP) YR 2015 SN 0006-8950 SN 1460-2156 JF Brain VO 138 IS 8 SP 2173 OP 2190 LK http://dx.doi.org/https://doi.org/10.1093/brain/awv153 DO https://doi.org/10.1093/brain/awv153 SF ELIB - SuUB Bremen
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