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The Incidence of Transient Infantile Pseudohypoaldosteronism in Ireland: a prospective study
Download from onlinelibrary.wiley.comBiallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes
Download from doi.orgDNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
UploadMutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families
Download from link.springer.comThe value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation
Download from onlinelibrary.wiley.comUniversal Genetic Screening Uncovers a Novel Presentation of an SDHAF2 Mutation
Download from academic.oup.comEstablishing trimester-specific maternal thyroid function reference intervals.
Download from journals.sagepub.comReference standard for serum bile acids in pregnancy
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