Last Posted: Jul 05, 2019
- Protocols for Genetic and Epigenetic Studies of Rare Diseases Affecting Dental Tissues.
Amorim Bruna Rabelo et al. Methods in molecular biology (Clifton, N.J.) 2019 1922453-492
- Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental care.
Farrow Emily et al. Orthodontics & craniofacial research 2019 May 22 Suppl 149-55
- Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.
Rey Tristan et al. Methods in molecular biology (Clifton, N.J.) 2019 1922407-452
- Genetic testing for amelogenesis imperfecta: knowledge and attitudes of paediatric dentists.
McDowall F et al. British dental journal 2018 Aug 225(4) 335-339
- Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
Smith Claire E L, et al. European journal of human genetics : EJHG 2016 6
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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