Presentation
Scientific Publications
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2025
Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenes..., J Clin Endocrinol Metab
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2024
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset ..., Int J Mol Sci
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2022
Agonists of prostaglandin E receptors as potential first in class treatment f..., Proc Natl Acad Sci U S A
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2022
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Def..., J Clin Immunol
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2019
Human C-terminal CUBN variants associate with chronic proteinuria and normal ..., J Clin Invest
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2018
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Defici..., J Clin Immunol