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Mutations in PURA Cause Profound Neonatal Hypotonia, Seizur..:
Lalani, Seema R.
;
Zhang, Jing
;
Schaaf, Christian P.
...
The American Journal of Human Genetics. 95 (2014) 5 - p. 579-583 , 2014
Link:
https://doi.org/10.1016/j.ajhg.2014.09.014
RT Journal T1
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2014.09.014&Exemplar=1&LAN=DE A1 Lalani, Seema R. A1 Zhang, Jing A1 Schaaf, Christian P. A1 Brown, Chester W. A1 Magoulas, Pilar A1 Tsai, Anne Chun-Hui A1 El-Gharbawy, Areeg A1 Wierenga, Klaas J. A1 Bartholomew, Dennis A1 Fong, Chin-To A1 Barbaro-Dieber, Tina A1 Kukolich, Mary K. A1 Burrage, Lindsay C. A1 Austin, Elise A1 Keller, Kory A1 Pastore, Matthew A1 Fernandez, Fabio A1 Lotze, Timothy A1 Wilfong, Angus A1 Purcarin, Gabriela A1 Zhu, Wenmiao A1 Craigen, William J. A1 McGuire, Marianne A1 Jain, Mahim A1 Cooney, Erin A1 Azamian, Mahshid A1 Bainbridge, Matthew N. A1 Muzny, Donna M. A1 Boerwinkle, Eric A1 Person, Richard E. PB Elsevier BV YR 2014 SN 0002-9297 JF The American Journal of Human Genetics VO 95 IS 5 SP 579 OP 583 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2014.09.014 DO https://doi.org/10.1016/j.ajhg.2014.09.014 SF ELIB - SuUB Bremen
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