Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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Targeted next-generation seque ...... n Childhood Diabetes Registry.

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Targeted next-generation seque ...... n Childhood Diabetes Registry.

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Targeted next-generation seque ...... n Childhood Diabetes Registry.

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Targeted next-generation seque ...... n Childhood Diabetes Registry.

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Targeted next-generation seque ...... n Childhood Diabetes Registry.

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Targeted next-generation seque ...... n Childhood Diabetes Registry.

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Targeted next-generation seque ...... n Childhood Diabetes Registry.

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P2093

Bente B Johansson

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Henrik U Irgens

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Ingvild Aukrust

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Janne Molnes

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Oddmund Søvik

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Paweł Sztromwasser

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P2860

An integrated map of genetic variation from 1,092 human genomes

Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis

Genetic cause of hyperglycaemia and response to treatment in diabetes

Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth.

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.

A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes.

Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes.

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes.

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625-635

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10.1007/S00125-016-4167-1

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2016-12-02T00:00:00Z

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