Last Posted: May 08, 2020
- A Weighted Genetic Risk Score Using Known Susceptibility Variants to Predict Graves Disease Risk.
Ma Yu-Ru et al. The Journal of clinical endocrinology and metabolism 2019 104(6) 2121-2130
- Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology.
Caffarelli Carlo et al. Italian journal of pediatrics 2016 Aug 42(1) 75
- THE MEDICAL MANAGEMENT OF GRAVES DISEASE IN THE ERA OF PRECISION MEDICINE.
Chiovato Luca et al. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2019 Jan 25(1) 112-114
- Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy.
Patel Kashyap A et al. Clinical endocrinology 2018 Oct
- A MicroRNA Signature for Evaluation of Risk and Severity of Autoimmune Thyroid Diseases.
Martínez-Hernández Rebeca et al. The Journal of clinical endocrinology and metabolism 2018 103(3) 1139-1150
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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