Associated Papers
A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.
Targovnik HM et al.
Endocrine, 2025
Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.
Wang M et al.
Respiratory Research, 2020
32054482 (PubMed )
Supplement: 12931_2020_1314_MOESM1_ESM.xlsx › S6
Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism.
Hoste C et al.
Human Mutation, 2010
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