Found: 23
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A case with febrile attacks and vasculopathy associated with ADA2 and MEFV pathogenic variants.
- Published in:
- Modern Rheumatology Case Reports, 2024, v. 8, n. 1, p. 121, doi. 10.1093/mrcr/rxad045
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- Publication type:
- Article
A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing.
- Published in:
- Turkish Journal of Hematology, 2019, v. 36, n. 1, p. 29, doi. 10.4274/tjh.galenos.2018.2018.0325
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- Publication type:
- Article
A novel BH3 mimetic Bcl-2 inhibitor promotes autophagic cell death and reduces in vivo Glioblastoma tumor growth.
- Published in:
- Cell Death Discovery, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41420-022-01225-9
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- Publication type:
- Article
Protein biomarkers for multiple sclerosis: semi-quantitative analysis of cerebrospinal fluid candidate protein biomarkers in different forms of multiple sclerosis.
- Published in:
- Multiple Sclerosis Journal, 2012, v. 18, n. 8, p. 1081, doi. 10.1177/1352458511433303
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- Publication type:
- Article
Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.
- Published in:
- Rheumatology, 2023, v. 62, n. 9, p. 3188, doi. 10.1093/rheumatology/kead044
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- Publication type:
- Article
Çocuk romatolojisinde genetiğin yeri.
- Published in:
- Türk Pediatri Arşivi, 2017, v. 52, n. 3, p. 113, doi. 10.5152/TurkPediatriArs.2017.4953
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- Publication type:
- Article
Investigation of neuro-inflammatory parameters in a cuprizone induced mouse model of multiple sclerosis.
- Published in:
- Turkish Journal of Biology, 2021, v. 45, n. 5, p. 644, doi. 10.3906/biy-2104-88
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- Publication type:
- Article
Prospective outcome analysis of multiple sclerosis cases reveals candidate prognostic cerebrospinal fluid markers.
- Published in:
- PLoS ONE, 2023, v. 17, n. 6, p. 1, doi. 10.1371/journal.pone.0287463
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- Publication type:
- Article
Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2.
- Published in:
- Turkish Journal of Pediatrics, 2019, v. 61, n. 3, p. 413, doi. 10.24953/turkjped.2019.03.014
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- Publication type:
- Article
Var3PPred: variant prediction based on 3-D structure and sequence analyses of protein-protein interactions on autoinflammatory diseases.
- Published in:
- PeerJ, 2024, p. 1, doi. 10.7717/peerj.17297
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- Publication type:
- Article
Investigation of multiple sclerosis-related pathways through the integration of genomic and proteomic data.
- Published in:
- PeerJ, 2021, p. 1, doi. 10.7717/peerj.11922
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- Publication type:
- Article
Transcriptomics and Proteomics Analyses Reveal JAK Signaling and Inflammatory Phenotypes during Cellular Senescence in Blind Mole Rats: The Reflections of Superior Biology.
- Published in:
- Biology (2079-7737), 2022, v. 11, n. 9, p. 1253, doi. 10.3390/biology11091253
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- Publication type:
- Article
Whole exome sequencing for candidate gene search in patients with Clippers syndrome.
- Published in:
- 2018
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- Publication type:
- Abstract
Identification of multiple sclerosis-related pathways by integration of genomic and proteomic data.
- Published in:
- 2018
- By:
- Publication type:
- Abstract
Gene Defects in Familial Form of Juvenile Arthritis.
- Published in:
- 2018
- By:
- Publication type:
- letter
Translation of Cellular Senescence to Novel Therapeutics: Insights From Alternative Tools and Models.
- Published in:
- Frontiers in Aging, 2022, p. 1, doi. 10.3389/fragi.2022.828058
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- Publication type:
- Article
Investigating the role of common and rare variants in multiplex multiple sclerosis families reveals an increased burden of common risk variation.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-21484-x
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- Publication type:
- Article
Peripheral blood mononuclear cell proteome profile in Behçet's syndrome.
- Published in:
- Rheumatology International, 2020, v. 40, n. 1, p. 65, doi. 10.1007/s00296-019-04417-2
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- Publication type:
- Article
C3 glomerulopathy in NLRP12-related autoinflammatory disorder: case-based review.
- Published in:
- 2018
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- Publication type:
- Case Study
Familial Mediterranean fever in childhood: a single-center experience.
- Published in:
- Rheumatology International, 2018, v. 38, n. 1, p. 67, doi. 10.1007/s00296-017-3796-0
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- Publication type:
- Article
Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.
- Published in:
- Rheumatology International, 2018, v. 38, n. 1, p. 129, doi. 10.1007/s00296-017-3740-3
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- Publication type:
- Article
CSF Proteomics Identifies Specific and Shared Pathways for Multiple Sclerosis Clinical Subtypes.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0122045
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- Publication type:
- Article
Chemerin rs17173608 Gene Polymorphism is not Associated with Type 2 Diabetes Mellitus: a Cross-sectional Study.
- Published in:
- Folia Medica, 2019, v. 61, n. 1, p. 69, doi. 10.2478/folmed-2018-0045
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- Publication type:
- Article