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Publications by Elisa Giorgio

A Syndromic Extreme Insulin Resistance Caused by Biallelic POC1A Mutations in Exon 10

European Journal of Endocrinology

English

Three Novel Missense Mutations in SLC20A2 Associated With Idiopathic Basal Ganglia Calcification

Journal of the Neurological Sciences

English

Related publications

Congenital Dilated Cardiomyopathy Caused by Biallelic Mutations in Filamin C

European Journal of Human Genetics

English

Novel Recessive PDZD7 Biallelic Mutations in Two Chinese Families With Non-Syndromic Hearing Loss

American Journal of Medical Genetics, Part A

English

Double Resistance to Imatinib and AMG 706 Caused by Multiple Acquired KIT Exon 17 Mutations in a Gastrointestinal Stromal Tumour

Gastroenterology

English

A Case of Extreme Subcutaneous and Peripheral Insulin Resistance

Journal of Hospital Medicine

Internal Medicine

English

Constitutive Insulin Sensitivity and Obesity My Be Caused by PTEN Mutations

Obesity and Metabolism

Internal Medicine

Occupational Health

English

Targeting Oncoprotein Stability Overcomes Drug Resistance Caused by FLT3 Kinase Domain Mutations

Multidisciplinary

English

A Prospective Study of Impairment in Glucose Control Caused by Clozapine Without Changes in Insulin Resistance

American Journal of Psychiatry

English

Biallelic Mutations inDNM1Lare Associated With a Slowly Progressive Infantile Encephalopathy

English

Biallelic Deleterious BRCA1 Mutations in a Woman With Early-Onset Ovarian Cancer

Cancer Discovery

English