Last Posted: Jul 02, 2019
- Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer.
Hincza Kinga et al. Genes 2019 Jun 10(7)
- Familial non-medullary thyroid cancer: unraveling the genetic maze.
Peiling Yang Samantha et al. Endocrine-related cancer 2016 Dec 23(12) R577-R595
- ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
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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