Compound heterozygosity

Results: 47



#Item
41Neurodegenerative 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
42Anatomy / Genetics / Renal physiology / Hypouricemia / SLC22A12 / Compound heterozygosity / Renal function / Sickle-cell disease / Acute kidney injury / Biology / Uric acid / Medicine

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

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

Language: English
43Biology / Genetic genealogy / Triosephosphate isomerase deficiency / Triosephosphate isomerase / Genetic disorder / Compound heterozygosity / Heterozygote advantage / ICD-10 Chapter III: Diseases of the blood and blood-forming organs /  and certain disorders involving the immune mechanism / Health / Rare diseases / Genetics

Triose phosphate isomerase deficiency-TPI

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Source URL: www.enerca.org

Language: English - Date: 2013-04-19 06:26:07
44Medicine / 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
45Philosophy of biology / Collagen /  type VI /  alpha 1 / Collagen VI / Collagen / Congenital muscular dystrophy / Mutation / COL6A2 / Compound heterozygosity / COL6A3 / Genetics / Biology / Integrins

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Source URL: jmg.bmj.com

Language: English
46Medicine / Finnish heritage disease / Compound heterozygosity / Lysosomal storage disease / Neuronal ceroid lipofuscinosis / Congenital chloride diarrhea / Linkage disequilibrium / Congenital nephrotic syndrome / CLN3 / Health / Rare diseases / Biology

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Source URL: hmg.oxfordjournals.org

Language: English
47Genetic genealogy / Sickle-cell disease / Hemoglobin E / Hemoglobin / Thalassemia / Sickle cell trait / Anemia / Globin / Compound heterozygosity / Hematology / Hemoglobins / Medicine

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Source URL: medind.nic.in

Language: English - Date: 2009-04-21 14:30:00
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