Rosa Enacan

Familial Turner Syndrome: Case Report

Jimena Lopez Dacal, M. Villanueva, Rosa Enacan, 2018 .

Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients

P. Lapunzina, F. Santos-Simarro, A. Chiesa, 2019, Journal of Inborn Errors of Metabolism and Screening.

Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection

I. Bergadá, L. Gruñeiro-Papendieck, A. Chiesa, 2017, Hormone Research in Paediatrics.

Biallelic Stop Codon Mutations (p.F353Pfs*36/p.Y425X) in DUOX2 Gene Associated with Transient Congenital Hypothyroidism: Report of a Family and Literature Review

H. Targovnik, L. Gruñeiro-Papendieck, A. Chiesa, 2016 .

[Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases].

H. Targovnik, L. Gruñeiro-Papendieck, A. Chiesa, 2017, Archivos argentinos de pediatria.