Associated Papers
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
40195116 (PubMed )
Supplement: mmc1.xlsx › Multiple_molecular_diagnoses
Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay.
Wilpert NM et al.
International Journal of Molecular Sciences, 2024
39201272 (PubMed )
Supplement: ijms-25-08585-s001.zip › Table_S1.xlsx › Table_S1
2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.
Persani L et al.
European Thyroid Journal, 2024
38963712 (PubMed )
Supplement: supplementary_table_1.pdf
What is the Role of Thyroid Hormone Receptor Alpha 2 (TRα2) in Human Physiology?
Paisdzior S et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2022
Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation.
Furman AE et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.
Paisdzior S et al.
International Journal of Molecular Sciences, 2021
34069457 (PubMed )
Supplement: ijms-22-05338-s001.zip › ijms-1156618-supplementary.pdf
The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults
Erbaş İM et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
Thyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North Africa.
Al Shidhani A et al.
Oman Medical Journal, 2021
A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance.
Korkmaz O et al.
Hormones (athens, Greece), 2019
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