Berardinelli-Seip syndrome patient with novel splicesite mutation and concomitant development of non-diabetic polyneuropathy. J Clin Res Pediatr Endocrinol. 2018 ;..
Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 ;..
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol. 2016 ;60:83-7..