Associated Papers
Insulin receptor variants: Extending the traditional Mendelian spectrum.
Collin-Chavagnac D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Whole-exome Sequencing Analysis of a Japanese Patient With Hyperinsulinemia and Liver Dysfunction.
Fujita S et al.
Journal of the Endocrine Society, 2022
Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome.
Dagdeviren Cakir A et al.
Molecular Syndromology, 2020
Hyperinsulinemia and Insulin Receptor Gene Mutation in Nonobese Healthy Subjects in Japan.
Fujita S et al.
Journal of the Endocrine Society, 2017
Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.
Azzabi O et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
The genomic landscape of pediatric Ewing sarcoma.
Crompton BD et al.
Cancer Discovery, 2014
25186949 (PubMed )
Supplement: 21598290cd131037-sup-124608_2_supp_2613703_njcnpj.xlsx › Mutation_List_TN
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.
Ardon O et al.
Molecular Genetics and Metabolism Reports, 2014
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