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1 Ergebnisse
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De novo ATP1A3 and compound heterozygous NLRP3 mutations in..:
Torres, Alcy
;
Brownstein, Catherine A.
;
Tembulkar, Sahil K.
...
Molecular Genetics and Metabolism Reports. 16 (2018) - p. 23-29 , 2018
Link:
https://doi.org/10.1016/j.ymgmr.2018.06.001
RT Journal T1
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ymgmr.2018.06.001&Exemplar=1&LAN=DE A1 Torres, Alcy A1 Brownstein, Catherine A. A1 Tembulkar, Sahil K. A1 Graber, Kelsey A1 Genetti, Casie A1 Kleiman, Robin J. A1 Sweadner, Kathleen J. A1 Mavros, Chrystal A1 Liu, Kevin X. A1 Smedemark-Margulies, Niklas A1 Maski, Kiran A1 Yang, Edward A1 Agrawal, Pankaj B. A1 Shi, Jiahai A1 Beggs, Alan H. A1 D'Angelo, Eugene A1 Lincoln, Sarah Hope A1 Carroll, Devon A1 Dedeoglu, Fatma A1 Gahl, William A. A1 Biggs, Catherine M. A1 Swoboda, Kathryn J. A1 Berry, Gerard T. A1 Gonzalez-Heydrich, Joseph PB Elsevier BV YR 2018 SN 2214-4269 JF Molecular Genetics and Metabolism Reports VO 16 SP 23 OP 29 LK http://dx.doi.org/https://doi.org/10.1016/j.ymgmr.2018.06.001 DO https://doi.org/10.1016/j.ymgmr.2018.06.001 SF ELIB - SuUB Bremen
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