M. Olcese

Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.

R. González-Sarmiento, F. Cassorla, H. Targovnik, 2009, Molecular and cellular probes.

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis

R. González-Sarmiento, H. Targovnik, A. Chiesa, 2022, Endocrine.

[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.

Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene

R. González-Sarmiento, H. Targovnik, L. Gruñeiro-Papendieck, 2012, Clinical endocrinology.

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 .

Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis

Cintia E. Citterio, H. Targovnik, M. Miras, 2016, Molecular and Cellular Endocrinology.