Associated Papers
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Nykamp K et al.
Human Mutation, 2021
34196078 (PubMed )
Supplement: HUMU-42-1165-s002.xlsx › Sheet1
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.
Van Goor F et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2014
Genetics and phenomics of hypothyroidism due to TSH resistance.
Persani L et al.
Molecular and Cellular Endocrinology, 2010
Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.
Beck-Peccoz P et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
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