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Revista Chilena De Pediatria|March 14, 2017
[Clinical and genetic study patients with tuberous sclerosis complex]Carla Rubilar, Francisca López, Mónica Troncoso, et al.
Clinical Case Reports|May 24, 2021
Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in <i>FAM126A</i> gene VariantMónica Troncoso, Fernanda Balut, Scarlet Witting, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 12, 2026
A <i>KCNC1</i> variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channelDiego Maureira, Carla Rubilar, Joaquín López, et al.
Revista Chilena De Infectologia : Organo Oficial De La Sociedad Chilena De Infectologia|January 31, 2012
[Clinical and molecular characterization of ESBL-producing enterobacteria isolated from bacteremia in a university hospital]Patricia García C, Carla Rubilar P, Daniel Vicentini H, et al.
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