Last Posted: Aug 27, 2019
- Genetic screening in a large Chinese cohort of childhood onset hypoparathyroidism by next-generation sequencing combined with TBX1-MLPA.
Wang Yabing et al. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 Aug
- Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.
Donoghue Sarah E et al. Journal of pediatric endocrinology & metabolism : JPEM 2018 Mar 31(4) 451-459
- CLINGEN Actionability Report for Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer - RET
ClinGen Actionability Working Group
- Is new American Thyroid Association risk classification for hereditary medullary thyroid carcinoma applicable to Chinese patients? A single-center study.
Zhang Xiwei et al. Chinese journal of cancer research = Chung-kuo yen cheng yen chiu 2017 Jun 29(3) 223-230
- Mitochondrial disease and endocrine dysfunction.
Chow Jasmine et al. Nature reviews. Endocrinology 2017 Feb 13(2) 92-104
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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