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Publications by Elizabeth T. DeChene

Mutations of Tropomyosin 3 (TPM3) Are Common and Associated With Type 1 Myofiber Hypotrophy in Congenital Fiber Type Disproportion

English

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

Journal of Molecular Diagnostics

Forensic Medicine

Molecular Medicine

English

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Codanin-1 Mutations in Congenital Dyserythropoietic Anemia Type 1 Affect HP1 Localization in Erythroblasts

English

Cortisone-Reductase Deficiency Associated With Heterozygous Mutations in 11 -Hydroxysteroid Dehydrogenase Type 1

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Novel Mutations in CRYGC Are Associated With Congenital Cataracts in Chinese Families

Scientific Reports

Multidisciplinary

English

Congenital Dyserythropoietic Anemia Type 1: A Case With Novel Compound Heterozygous Mutations in the C15orf41 Gene

American Journal of Hematology

English

Thyroid Disorders Are Common in First-Degree Relatives of Individuals With Type 1 Diabetes Mellitus

Archives of endocrinology and metabolism

English

Mutations in SOX17 Are Associated With Congenital Anomalies of the Kidney and the Urinary Tract

English

Type 1 Diabetes and Type 1 Interferonopathies: Localization of a Type 1 Common Thread of Virus Infection in the Pancreas

Molecular Biology

English

CXCL4L1 Promoter Polymorphisms Are Associated With Improved Renal Function in Type 1 Diabetes

Journal of Immunology

English

Increased Plasma Adiponectin Concentrations Are Associated With Microangiopathy in Type 1 Diabetic Subjects

Internal Medicine

English