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1. Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps. Issue 5 (23rd March 2022)

2. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Issue 7 (July 2020)

3. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Issue 7 (July 2020)

7. Heterozygous Mutations in Natriuretic Peptide Receptor‐B (NPR2) Gene as a Cause of Short Stature. Issue 4 (16th March 2015)

9. Impact of route of administration on genotoxic oestrogens concentrations using oral vs transdermal oestradiol in girls with Turner syndrome. (25th October 2018)