Samuel Refetoff

17PUBLICATIONS
27CO-AUTHORS
Major global burdens of diseaseMedical biochemistry - amino acids and metabolitesMolecular targetsEpigenetics (incl. genome methylation and epigenomics)Psychosocial aspects of childbirth and perinatal mental health
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Publications (17)

|Sep 26, 2025
Functional Domain Mapping of TPO: Insights From 6 Variants in Sudanese Kindreds With Congenital Hypothyroidism.

Mohammad S Islam, Ruy A Louzada, Jessica Bouviere

|Sep 16, 2024
Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients.

Roy E Weiss, Joana R N Lemos, Alexandra M Dumitrescu

|Jul 04, 2024
2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.

Luca Persani, Patrice Rodien, Carla Moran

|May 07, 2024
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.

Helmut Grasberger, Alexandra M Dumitrescu, Xiao-Hui Liao

|May 07, 2023
Effect of the Fetal THRB Genotype on the Placenta.

Federico Salas-Lucia, Marius N Stan, Haleigh James

|Mar 07, 2023
Iodotyrosines Are Biomarkers for Preclinical Stages of Iodine-Deficient Hypothyroidism in Dehal1-Knockout Mice.

Cristian González-Guerrero, Marco Borsò, Pouya Alikhani

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Frequent Collaborators

8 joint publications

Alexandra M Dumitresu

3 joint publications

Mingyao Liu

2 joint publications

Takashi Yoshimura

2 joint publications

Roy E Weiss