Channelopathy

Results: 689



#Item
661Neurodegenerative disorders / Molecular biology / Spinocerebellar ataxia / Exome sequencing / Channelopathy / Ataxia / Mutation / Compound heterozygosity / Neurogenetics / Biology / Genetics / Health

Clinical significance of serological biomarkers and neuropsychological performances in patients with temporal lobe epilepsy

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Source URL: www.ncbi.nlm.nih.gov

Language: English
662Channelopathy / Vision / ABCA4 / Retinitis pigmentosa / Macular degeneration / Stargardt disease / Cone dystrophy / Maculopathy / Mutation / Ophthalmology / Health / Blindness

1650 EXTENDED REPORT

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Source URL: www.ncbi.nlm.nih.gov

Language: English
663Rare diseases / Channelopathy / Cystic fibrosis / Pediatrics / Inflammation / Allergic bronchopulmonary aspergillosis / Pseudomonas aeruginosa / Acute respiratory distress syndrome / Norfloxacin / Health / Medicine / Biology

Hentschel et al. BMC Pulmonary Medicine 2014, 14:82 http://www.biomedcentral.com[removed]

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Source URL: www.ncbi.nlm.nih.gov

Language: English
664American Quarter Horses / Warmbloods / Channelopathy / Hereditary equine regional dermal asthenia / Breeding / Stallion / Myotonia

NEW FOREST PONY BREEDING AND CATTLE SOCIETY MYOTONIA

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Source URL: www.newforestpony.com

Language: English - Date: 2012-12-05 08:02:53
665Visual system / Blindness / Channelopathy / Retinitis pigmentosa / Retinal pigment epithelium / Macular degeneration / Choroid / Retinal Degeneration / Retina / Ophthalmology / Vision / Health

526 Proceedings of the Royal Society of Medicine

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Source URL: www.ncbi.nlm.nih.gov

Language: English
666Philosophy of biology / Channelopathy / Nonsyndromic deafness / GJB2 / Sensorineural hearing loss / Connexin / Chromosome 13 / Mutation / Haplotype / Genetics / Biology / Deafness

Hum Genet[removed] : 284–289 DOI[removed]s00439[removed]

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Source URL: www.tau.ac.il

Language: English - Date: 2010-11-12 08:57:39
667Pancreas disorders / Pediatrics / Channelopathy / Cystic fibrosis / Pseudomonas infection / Cystic Fibrosis Foundation / Mucus / Acetylcysteine / Sweat test / Medicine / Health / Biology

Chapter 3 Medical Aspects

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Source URL: www.princeton.edu

Language: English - Date: 2007-03-19 10:54:48
668Medicine / Syndromes / Rare diseases / Channelopathy / Evolutionary biology / Mutation / Compound heterozygosity / Retinitis pigmentosa / X-linked recessive inheritance / Health / Genetics / Biology

European Journal of Human Genetics[removed], 272–278 & 2007 Nature Publishing Group All rights reserved[removed] $30.00

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Source URL: www.nature.com

Language: English - Date: 2010-02-20 13:27:14
669Pancreas disorders / Channelopathy / Cystic fibrosis / Pediatrics / Denufosol / Epithelial sodium channel / ΔF508 / Mucociliary clearance / Chloride channel / Biology / Health / Anatomy

Cystic Fibrosis: Pathogenesis and Future Treatment Strategies Felix A Ratjen MD PhD FRCP(C)

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Source URL: www.rcjournal.com

Language: English - Date: 2009-04-24 03:41:10
670Genetics / Genodermatoses / Channelopathy / Genetic disorder / Victor A. McKusick / Genetic heterogeneity / Cartilage–hair hypoplasia / Marfan syndrome / Hereditary elliptocytosis / Health / Medicine / Syndromes

On Lumpers and Splitters, or the Nosology of Genetic Disease* VICTOR A. MCKUSICK,

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Source URL: profiles.nlm.nih.gov

Language: English - Date: 2008-10-22 10:29:54
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