Last Posted: Aug 16, 2019
- Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.
Nagaraja M R et al. Systems biology in reproductive medicine 2019 Apr 65(2) 105-120
- Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.
Fukami Maki, et al. The Journal of clinical endocrinology and metabolism 2009 5 (5) 1723-31
- CYP17 polymorphism and tamoxifen-induced hepatic steatosis.
Ohnishi Takenao, et al. Hepatology research : the official journal of the Japan Society of Hepatology 2005 10 (2) 178-80
- No evidence of mutations in the P450 aromatase gene in patients with polycystic ovary syndrome.
Söderlund D, et al. Human reproduction (Oxford, England) 2005 4 (4) 965-9
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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