Associated Papers
Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant.
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European Journal of Endocrinology, 2024
Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency.
Patjamontri S et al.
Hormone Research in Paediatrics, 2024
Brain radiotoxicity-related 15CAcBRT gene expression signature predicts survival prognosis of glioblastoma patients.
Reyes-González J et al.
Neuro-oncology, 2023
35802478 (PubMed )
Supplement: noac171_suppl_suplementary_table_s7.xlsx › Table_S7
Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.
Maharaj AV
Frontiers in Endocrinology, 2023
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
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