List of works - Emmanuelle Ranza - Paulina

List of works by Emmanuelle Ranza

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

scientific article published on 01 November 2020

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants

scientific article published on 31 March 2020

SCN8A heterozygous variants are associated with anoxic-epileptic seizures

scientific article published on 10 February 2020

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.

scientific article published on 20 June 2017

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