Research interests

Multi-omics of congenital hypothyroidism

specialisation

Pediatric Endocrinology

specialisation

Rare disorders

specialisation

Protein modeling

Research output

  1. An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB: A Case Report

    Research output: Contribution to journalArticleAcademicpeer-review

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ID: 7058957