Found: 15
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A Study of The Spinal Muscular Atrophy Cohorts in The Eastern Anatolia Region of Türkiye.
- Published in:
- Southern Clinics of Istanbul Eurasia, 2024, v. 35, n. 3, p. 224, doi. 10.14744/scie.2024.82542
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- Article
The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia.
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- Metabolic Syndrome & Related Disorders, 2021, v. 19, n. 6, p. 340, doi. 10.1089/met.2021.0004
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- Article
The Impact of Resveratrol on Oxidative Stress Induced by Methotrexate in Rat Ileum Tissue: Evaluation of Biochemical and Histopathological Features and Analysis of Gene Expression.
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- Medical Principles & Practice, 2016, v. 25, n. 2, p. 181, doi. 10.1159/000442020
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- Publication type:
- Article
The Impact of Resveratrol on Oxidative Stress Induced by Methotrexate in Rat Ileum Tissue: Evaluation of Biochemical and Histopathological Features and Analysis of Gene Expression.
- Published in:
- 2016
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- Publication type:
- journal article
Investigating CFTR gene variations in patient groups with positive newborn screening test results and preliminary clinical diagnosis of cystic fibrosis in the eastern anatolia region of Turkey.
- Published in:
- Medicine Science, 2021, v. 10, n. 2, p. 293, doi. 10.5455/medscience.2020.10.228
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- Publication type:
- Article
Screening of MC4R, LEP, LEPR, POMC, SH2B1, and SIM1 genes in Turkish children with severe early-onset obesity.
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- Medicine Science, 2021, v. 10, n. 2, p. 328, doi. 10.5455/medscience.2020.10.211
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- Publication type:
- Article
Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome.
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- Molecular Syndromology, 2022, v. 13, n. 4, p. 270, doi. 10.1159/000521330
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- Publication type:
- Article
A successful liver transplantation in a patient with neonatal-onset carbamoyl phosphate synthetase-1 deficiency.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 10, p. 924, doi. 10.1515/jpem-2024-0240
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- Publication type:
- Article
Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism.
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- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 6, p. 771, doi. 10.1515/jpem-2020-0590
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- Publication type:
- Article
A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature.
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 11, p. 1287, doi. 10.1515/jpem-2019-0173
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- Publication type:
- Article
The effect of metamizole on ischemia/reperfusion injury in the rat ovary: An analysis of biochemistry, molecular gene expression, and histopathology.
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- Indian Journal of Pharmacology, 2016, v. 48, n. 1, p. 32, doi. 10.4103/0253-7613.174515
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- Publication type:
- Article
Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 9-10, p. 558, doi. 10.1159/000515079
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- Publication type:
- Article
Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes.
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- Hormone Research in Paediatrics, 2019, v. 91, n. 3, p. 175, doi. 10.1159/000498860
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- Publication type:
- Article
Controlled reperfusion for different durations in the treatment of ischemia-reperfusion injury of the rat ovary: evaluation of biochemical features, molecular gene expression, and histopathology.
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- Canadian Journal of Physiology & Pharmacology, 2015, v. 93, n. 4, p. 269, doi. 10.1139/cjpp-2014-0359
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- Publication type:
- Article
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.
- Published in:
- Neurogenetics, 2022, v. 23, n. 3, p. 213, doi. 10.1007/s10048-022-00693-6
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- Publication type:
- Article