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Publications by Thomas James Giordano

Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation

Journal of Bone and Mineral Research

Sports Medicine

English

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A Unique Case of Hyperparathyroidism-Jaw Tumour Syndrome Due to a Previously Unreported Pathogenic Duplication Mutation of CDC73 Gene

Endocrine Abstracts

English

Primary Hyperparathyroidism Due to Parathyroid Adenoma Presenting as Recurrent Acute Pancreatitis

Asian Journal of Medical Sciences

English

A Novel Aberrant Splice Site Mutation in the APC Gene

Journal of Medical Genetics

English

Recurrent Hyperparathyroidism Due to Proliferation of Autotransplanted Parathyroid Tissue in a Multiple Endocrine Neoplasia Type 2A Patient

Annals of Surgical Treatment and Research

English

Juvenile Onset Autoinflammatory Disease Due to a Novel Mutation in TNFAIP3 (A20)

Arthritis Research & Therapy

English

A Patient Severely Affected by Spinal Neurofibromas Carries a Recurrent Splice Site Mutation in the NF1 Gene

European Journal of Human Genetics

English

Severe Primary Hyperparathyroidism Due to Parathyroid Carcinoma in a 13-Year-Old Child; Novel Findings From HRpQCT

English

A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment

Multidisciplinary

English

Novel Splice Site IDUA Gene Mutation in Tunisian Pedigrees With Hurler Syndrome

Diagnostic Pathology

Forensic Medicine

English