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Proceedings of the National Academy of Sciences of the United States of America|May 9, 2012
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autismPatrícia B S Celestino-Soper, Sara Violante, Emily L Crawford, et al.Pediatric Neurology|November 19, 2025
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational StudyJudith S Miller, Cristan Farmer, Susan Blair, et al.JAMA Psychiatry|December 3, 2015
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical ComorbiditiesDebra D'Angelo, Sébastien Lebon, Qixuan Chen, et al.American Journal of Human Genetics|July 2, 2013
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensitiesWojciech Wiszniewski, Jill V Hunter, Neil A Hanchard, et al.Pageof 7