Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Ethnic variation and structure-function analysis of tauopathy-associated PERK alleles.
Park G et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Natural history of Wolcott-Rallison syndrome: A systematic review and follow-up study.
Aldrian D et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2024
38230874 (PubMed )
Supplement: supplement_1.pdf
Neurodegeneration risk factor, EIF2AK3 (PERK), influences tau protein aggregation.
Park G et al.
The Journal of Biological Chemistry, 2023
36563857 (PubMed )
Supplement: mmc2.xlsx › gnomAD_v2.1.1_ENSG00000172071_2
Diabetes management in Wolcott-Rallison syndrome: analysis from the German/Austrian DPV database.
Welters A et al.
Orphanet Journal of Rare Diseases, 2020
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel.
Kherra S et al.
Swiss Medical Weekly, 2017
Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases.
Collardeau-Frachon S et al.
Pediatric Diabetes, 2015
Early Neurodegeneration in the Brain of a Child Without Functional PKR-like Endoplasmic Reticulum Kinase.
Bruch J et al.
Journal of Neuropathology and Experimental Neurology, 2015
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