Associated Papers
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6
Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism.
Gentilini D et al.
Journal of Endocrinological Investigation, 2023
Analysis of mutations of PARP1, RNF213, PAX8, KMT2C, MTRR in malignant mesothelioma of testicular tunica vaginalis testis.
Kowalik A et al.
Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2020
Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia.
Zdraveska N et al.
Frontiers in Endocrinology, 2020
Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?
Medda E et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_OtherCG
Select a paper to view details