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Human Molecular Genetics|June 9, 2026
Limited penetrance of dominantly inherited AIRE variants in a population-based cohortSuraj N Ramchand, Jacques Murray Leech, Luke N Sharp, et al.
Medrxiv : the Preprint Server for Health Sciences|December 25, 2025
Genetic risk in extremely early onset type 1 diabetesAmber M Luckett, Georgia Bonfield, Gareth Hawkes, et al.
American Journal of Human Genetics|March 21, 2026
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetesMatthew B Johnson, James Russ-Silsby, Paul A Blair, et al.
Diabetes|February 27, 2026
Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune DiabetesGeorgia Bonfield, James Russ-Silsby, Suraj Ramchand, et al.
The Journal of Clinical Investigation|September 9, 2025
Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndromeEnrico Virgilio, Sylvia Tielens, Georgia Bonfield, et al.
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