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Diabetes|October 30, 2019
High Prevalence of a Monogenic Cause in Han Chinese Diagnosed With Type 1 Diabetes, Partly Driven by Nonsyndromic Recessive <i>WFS1</i> MutationsMeihang Li, Sihua Wang, Kuanfeng Xu, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|January 21, 2015
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case seriesIsabelle Rousseau-Nepton, Minoru Okubo, Rosemarie Grabs, et al.
Diabetologia|March 7, 2026
Development and validation of a trans-ancestry polygenic risk score for type 1 diabetesBasile Jumentier, Hui-Qi Qu, Tianyuan Lu, et al.
Biomedical Optics Express|January 2, 2023
Self-supervised speckle noise reduction of optical coherence tomography without clean dataYangxi Li, Yingwei Fan, Hongen Liao
BMC Endocrine Disorders|November 12, 2021
Causal variants in Maturity Onset Diabetes of the Young (MODY) - A systematic reviewIbrar Rafique, Asif Mir, Muhammad Arif Nadeem Saqib, et al.
Annals of Neurology|January 26, 2012
Exome sequencing: dual role as a discovery and diagnostic toolChee-Seng Ku, David N Cooper, Constantin Polychronakos, et al.
Annals of Human Genetics|June 12, 2012
Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cisKyriakos Kazakos, Kalliopi Kotsa, Maria Yavropoulou, et al.
Plos One|August 20, 2014
Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genesQuan Li, Xiaoming Liu, Richard A Gibbs, et al.
Saudi Journal of Biological Sciences|October 10, 2022
Development of simple and effective PCR based assay to detect <i>PCCA</i> mutation (c.425G > A) among Saudi carriers and functional study of the homozygous <i>PCCA</i> mutationsAli Al-Asmari, Abdul Ali Peer-Zada, Abdulwahed AlDehaimi, et al.
Endocrinology, Diabetes & Metabolism Case Reports|October 22, 2014
One year remission of type 1 diabetes mellitus in a patient treated with sitagliptinMarcos M Lima-Martínez, Ernesto Guerra-Alcalá, Miguel Contreras, et al.
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