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Publications by Fabio Sirchia

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

European Journal of Endocrinology

English

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Congenital Dilated Cardiomyopathy Caused by Biallelic Mutations in Filamin C

European Journal of Human Genetics

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

American Journal of Medical Genetics, Part A

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

Gastroenterology

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A Case of Extreme Subcutaneous and Peripheral Insulin Resistance

Journal of Hospital Medicine

Internal Medicine

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Constitutive Insulin Sensitivity and Obesity My Be Caused by PTEN Mutations

Obesity and Metabolism

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Occupational Health

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

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

American Journal of Psychiatry

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Biallelic Mutations inDNM1Lare Associated With a Slowly Progressive Infantile Encephalopathy

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

Cancer Discovery

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