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Publications by Sian Ellard
Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
American Journal of Human Genetics
Genetics
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
American Journal of Human Genetics
Genetics
Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree With Dominant Axonal Charcot-Marie-Tooth Disease
American Journal of Human Genetics
Genetics
Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation
Diabetes Care
Internal Medicine
Endocrinology
Advanced
Metabolism
Specialized Nursing
Diabetes
Heterozygous RFX6 Protein Truncating Variants Are Associated With MODY With Reduced Penetrance
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes
Diabetes
Internal Medicine
Endocrinology
Metabolism
Diabetes
The CommonHNF1AVariant I27L Is a Modifier of Age at Diabetes Diagnosis in HNF1A-MODY Individuals
Diabetes
Internal Medicine
Endocrinology
Metabolism
Diabetes
Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated
Diabetes
Internal Medicine
Endocrinology
Metabolism
Diabetes
A Type 1 Diabetes Genetic Risk Score Can Discriminate Monogenic Autoimmunity With Diabetes From Early-Onset Clustering of Polygenic Autoimmunity With Diabetes
Diabetologia
Internal Medicine
Endocrinology
Metabolism
Diabetes
Characterization of ABCC8 and KCNJ11 Gene Mutations and Phenotypes in Korean Patients With Congenital Hyperinsulinism
European Journal of Endocrinology
Medicine
Endocrinology
Metabolism
Diabetes
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