Genetic disorders

Results: 455



#Item
151Pervasive developmental disorders / Neurological disorders / Autism / Epilepsy / Health / Medicine / Isodicentric 15

Ethical issues in genetic risk factor research Edwin Cook M.D. University of Illinois College of Medicine

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Source URL: iacc.hhs.gov

Language: English - Date: 2011-09-28 18:04:29
152Medical genetics / Genetic disorders / Choroideremia / Emerging technologies / Gene delivery / Medical research / Rab escort protein / Retinitis pigmentosa / Retina / Biology / Medicine / Health

CHOROIDEREMIA What is Choroideremia? Choroideremia is a rare inherited disorder that causes progressive loss of vision due to degeneration of the choroid and

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Source URL: www.blindness.org

Language: English - Date: 2014-09-24 14:15:00
153Medical genetics / Motor neurone disease / Hereditary spastic paraplegia / Syndromes / Neurological disorders / Spastic paraplegia 15 / Spinocerebellar ataxia / Spasticity / MASA syndrome / Health / Rare diseases / Genetic genealogy

Progressive Spastic Paraparesis: Hereditary Spastic Paraplegia and Its Relation to Primary and Amyotrophic Lateral Sclerosis John K. Fink, M.D.1 ABSTRACT

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Source URL: sp-foundation.org

Language: English - Date: 2014-07-15 14:55:21
154Genetic genealogy / Neurodegenerative disorders / Channelopathy / Brain disorders / Spinocerebellar ataxia / Ataxia / Dentatorubral-pallidoluysian atrophy / Olivopontocerebellar atrophy / Episodic ataxia / Health / Brain / Neurological disorders

Review Article Progressive Late-Onset Cerebellar Ataxia taxia is a term used to describe a condition characterised by disordered or incoordinate movement and is commonly caused by diseases affecting the cerebellum and i

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Source URL: www.acnr.co.uk

Language: English - Date: 2013-03-13 19:49:49
155Rare diseases / Neurological disorders / Syndromes / Genetic Alliance UK / Chronic fatigue syndrome / Duchenne muscular dystrophy / Clinical trial / Electroconvulsive therapy / Medical error / Health / Medicine / Epidemiology

ANTHROPOLOGICAL SURVEY OF INDIA MINISTRY OF CULTURE DEPARTMENT OF CULTURE GOVERNMENT OF INDIA 27, JAWAHARLAL NEHRU ROAD, KOLKATA[removed]Dial: [removed][removed]Tele Fax[removed]

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Source URL: www.ansi.gov.in

Language: English - Date: 2014-11-04 08:24:13
156Rare diseases / Neurological disorders / Syndromes / Genetic Alliance UK / Chronic fatigue syndrome / Duchenne muscular dystrophy / Clinical trial / Electroconvulsive therapy / Medical error / Health / Medicine / Epidemiology

Experiences of Rare Diseases: An Insight from Patients and Families By Lauren Limb, Stephen Nutt

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Source URL: www.raredisease.org.uk

Language: English - Date: 2010-11-25 14:02:16
157Mastocytosis / Myasthenia gravis / Genetic Alliance UK / Neurological disorders / Web 2.0 / Medical error / Ataxia telangiectasia / Health / Medicine / Autoimmune diseases

Key Statistics from the RDUK Report ‘Experiences of Rare Diseases: An Insight from Patients and Families’ Diagnosis   

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Source URL: www.raredisease.org.uk

Language: English - Date: 2011-06-08 11:04:07
158Rare diseases / Newborn screening / Methylmalonic acidemia / Thiolase / Propionic acidemia / Isovaleric acidemia / Malonyl-CoA / Glutaric aciduria type 1 / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Health / Genetic genealogy / Medical genetics

Missouri Newborn Screening Disorders Tested Biotinidase deficiency (BIOT) Classical galactosemia (GALT) Congenital adrenal hyperplasia (CAH) Congenital primary hypothyroidism (CH) Cystic fibrosis (CF)

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Source URL: health.mo.gov

Language: English - Date: 2013-07-10 12:04:01
159Muscular dystrophy / Genetic genealogy / Neuromuscular Disorders / Neuromuscular disease / Duchenne muscular dystrophy / ALS Society of Canada / Health / Muscular Dystrophy Canada / Medicine

Strategic Plan 2014–2017 Vision of Muscular Dystrophy Canada To find a cure for neuromuscular disorders in our lifetime.

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Source URL: muscle.ca

Language: English - Date: 2014-09-29 11:55:24
160Medical ethics / Genetic testing / Pervasive developmental disorders / Health / Epidemiology of autism / Medical genetics / Autism / Medicine

Identifying and Communicating Meaningful Genetic Results in ASD Diagnosis & Screening - Fiona Miller, PhD

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Source URL: iacc.hhs.gov

Language: English - Date: 2012-03-05 11:50:30
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