| Document Date: 2011-05-02 06:18:37
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City Amsterdam / Foster City / / Company GenBank / CDG / / Country Hungary / Netherlands / United States / / Currency pence / Rs / / IndustryTerm amplification products / treatment of common diseases / high energy demand / diagnostic algorithm / / MedicalCondition glaucoma / microcephaly / allergies / inherited metabolic diseases / each individual disease / rare diseases / common disease / myoclonus / epileptic disorder / multisystem disorders / seizures / liver disorder / patients cataract / male proband restlessness / non-syndromic isolated hearing impairment / movement disorder / axial hypotonia / Hearing impairment Hearing impairment / mitochondrial disorders / infantile spasms / glycosylation disorder / sensorineural hearing loss / muscle hypotonia / additionally bilateral cataract / nephritic syndrome / disorder / Mitochondrial diseases / hearing loss / liver disease / well-known syndromic mitochondrial disease / infections / hypoalbuminemia / common diseases / optic neuropathy / blindness / Rett syndrome / mitochondrial encephalomyopathy / orphan disease / hypsarrhythmia / Rett syndrome Rett syndrome / MELAS / psychomotor and mental retardation / West syndrome / disease / polyneuropathy and cystic kidneys / congenital disorders / rare disease / Hypertrophic obstructive cardiomyopathy / suspected Rett syndrome individuals / arthrogryposis / post-lingual hearing impairment / hypotonia / lactic acidosis / distinct rare diseases / hereditary optic neuropathy / Leigh syndrome / vomiting / individual rare diseases / lactic acidosis / non-syndromic hearing loss / diseases / focal necrosis / hypotonia / hypotonia / dysmorphic features / both syndromic and non-syndromic hearing impairment / Studied diseases / cataract / chronically debilitating diseases / epileptic seizures / cerebral paresis / Classic Rett syndrome / / Organization Department of Medical Genetics University Pécs / European Organization for Rare Diseases / European Commission / European Union / / Person Thesis Kinga Hadzsiev / Denis Leigh / Béla Melegh / / Position Supervisor / / ProvinceOrState California / / Technology diagnostic algorithm / genotyping / MRI / DNA sequencing / spectroscopy / genotype / /
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