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Indian journal of pediatrics, ISSN 0019-5456, 08/2019
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 04/2017, Volume 127, Issue 4, pp. 1485 - 1490
  Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein... 
Proteins | Studies | Cell culture | Hypotheses | Disease | Acne | Mutation | Experiments
Journal Article
Rheumatology international, ISSN 0172-8172, 07/2019
Systemic lupus erythematosus (SLE) and other autoimmune rheumatic diseases (AIRD) tend to co-aggregate in families, making positive familial history a risk... 
Journal Article
Pediatrics & Neonatology, ISSN 1875-9572, 2015, Volume 57, Issue 3, pp. 259 - 259
Journal Article
Cytokine, ISSN 1043-4666, 02/2019, Volume 114, pp. 61 - 66
Background: Toll-like receptors (TLR) 1 to 4 are highly expressed in aorta. Activation of TLR4 causes transmural arteritis in Human temporal artery-SCID... 
Calgranulins | S100A12 | Takayasu arteritis | TLR4
Journal Article
The Journal of the Association of Physicians of India, ISSN 0004-5772, 04/2017, Volume 65, Issue 4, pp. 89 - 90
Gaucher disease (GD) is the most common lysosomal storage disorder, caused by deficiency of acid beta glucosidase. GD usually presents in children but... 
Thrombocytopenia - etiology | Humans | Adult | Female | Gaucher Disease - diagnosis | Thrombocytopenia - complications | Cerebral Hemorrhage - etiology
Journal Article
Neurology, ISSN 0028-3878, 04/2019, Volume 92, Issue 18, pp. e2176 - e2177
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2018, Volume 50, Issue 8, pp. 1093 - 1101
Journal Article
BMC MEDICAL GENETICS, ISSN 1471-2350, 02/2019, Volume 20, Issue 1, pp. 31 - 11
Journal Article
International Journal of Rheumatic Diseases, ISSN 1756-1841, 03/2018, Volume 21, Issue 3, pp. 732 - 739
Background/Purpose Normal C‐reactive protein (CRP) in active Takayasu arteritis (TA) is a dilemma. We attempted to validate our pilot study finding of rs1205... 
CRP | gene polymorphism | Takayasu arteritis | vasculitis | CRP-LEVELS | VARIANTS | CARDIOVASCULAR-DISEASE | RISK | LEVEL | RHEUMATOLOGY | IL-6 | Genetic research | Genetic aspects | C-reactive protein | Analysis | Genes | Genetic polymorphisms | Genotype & phenotype | Phenotypes | Demography | Gene frequency | Coronary vessels | Alleles | Coronary artery | Aorta | Genotypes | Arteritis
Journal Article
Brain & Development, ISSN 0387-7604, 2015, Volume 38, Issue 5, pp. 516 - 519
Abstract Neurodegeneration with brain iron accumulation (NBIA) refers to an inherited heterogeneous group of disorders pathologically characterized by focal... 
Neurology | Neurodegeneration | Brain iron accumulation | Eye of tiger sign
Journal Article
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