Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
Thyroid hormone receptors and cancer.
Kim WG et al.
Biochimica Et Biophysica Acta, 2013
A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor β gene causes resistance to thyroid hormone.
Rivolta CM et al.
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2004
A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor beta gene causes resistance to thyroid hormone.
Rivolta CM et al.
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2004
Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.
Pohlenz J et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.
Weiss RE et al.
The Journal of Clinical Endocrinology and Metabolism, 1994
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