Published in Eur J Pediatr on February 24, 2010
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A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism. J Pediatr Endocrinol Metab (2014) 0.95
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Tumor necrosis factor alpha-308 gene polymorphism and pseudoexfoliation glaucoma. Mol Vis (2008) 0.93
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Restriction endonuclease analysis as a solution for determining rifampin resistance mutations by automated DNA sequencing in heteroresistant Mycobacterium tuberculosis strains. Microb Drug Resist (2005) 0.92
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Experience with long-term glucocorticoid treatment in congenital adrenal hyperplasia: growth pattern compared with genetic height potential. J Pediatr Endocrinol Metab (2006) 0.91
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Endothelial cell protein C receptor (EPCR) gene exon III, 23 bp insertion mutation in the Turkish pediatric thrombotic patients. Thromb Haemost (2002) 0.91
Iatrogenic Cushing syndrome due to nasal steroid drops. Eur J Pediatr (2011) 0.90
Prothrombin gene 20209 C >T along with the first description of a homozygous polymorphism at the 3' downstream region +4 C >T in the Turkish population. Lab Hematol (2006) 0.89
Early and severe presentation of vitamin D deficiency and nutritional rickets among hospitalized infants and the effective factors. Turk J Pediatr (2009) 0.89
Prevalence of the MEFV gene mutations in childhood polyarteritis nodosa. J Pediatr (2007) 0.89
Relationship between susceptibility to antimicrobials and virulence factors in paediatric Escherichia coli isolates. Int J Antimicrob Agents (2007) 0.88
EPCR gene A3 haplotype and elevated soluble endothelial protein C receptor (sEPCR) levels in Turkish pediatric stroke patients. Thromb Res (2006) 0.88
A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect. J Pediatr Endocrinol Metab (2014) 0.88
Blood group genotyping in multi-transfused patients. Transfus Apher Sci (2013) 0.88
The endocrine spectrum of intracranial cysts in childhood and review of the literature. J Pediatr Endocrinol Metab (2011) 0.88
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. J Pediatr Endocrinol Metab (2012) 0.88
Relationship between intraocular pressure and obesity in children. J Glaucoma (2007) 0.88
A note on mutation analysis in familial Mediterranean fever. Pediatr Nephrol (2003) 0.87
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Vascular endothelial growth factor gene 936 C/T polymorphism in breast cancer patients. Med Oncol (2007) 0.86
Treatment of autonomous ovarian follicular cyst with long-term anastrozole therapy. Indian J Pediatr (2009) 0.86
The importance of thrombotic risk factors in the development of idiopathic sudden hearing loss. Clin Appl Thromb Hemost (2007) 0.85
Arthritis in children with familial Mediterranean fever. Rheumatol Int (2002) 0.85
Effect of various genetic polymorphisms on the incidence and outcome of severe sepsis. Clin Appl Thromb Hemost (2006) 0.85
Vitamin D status and insulin requirements in children and adolescent with type 1 diabetes. J Pediatr Endocrinol Metab (2011) 0.85
First observation of homozygous hemoglobin hamadan (B 56 (D7) GLY-ARG) and beta thalassemia (-29 G>A)- hemoglobin Hamadan combination in a Turkish family. Am J Hematol (2003) 0.85
Paternal X could relate to arithmetic function; study of cognitive function and parental origin of X chromosome in Turner syndrome. Pediatr Int (2008) 0.85
Prohemostatic and antithrombin activities of Ankaferd hemostat are linked to fibrinogen gamma chain and prothrombin by functional proteomic analyses. Clin Appl Thromb Hemost (2012) 0.85
A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects. J Pediatr Endocrinol Metab (2014) 0.85
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Soluble endothelial cell protein C receptor and thrombomodulin levels after renal transplantation. Int Urol Nephrol (2009) 0.85
The treatment of cerebral salt wasting with fludrocortisone in a child with lissencephaly. Turk Neurosurg (2010) 0.84
PCR evaluation of false-positive signals from two automated blood-culture systems. J Med Microbiol (2006) 0.84
The relation between cytokines, soluble endothelial protein C receptor, and factor VIII levels in Turkish pediatric stroke patients. Clin Appl Thromb Hemost (2008) 0.84
An uncommon cause of hypoglycemia: insulin autoimmune syndrome. Horm Res Paediatr (2014) 0.83
Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation. J Pediatr Endocrinol Metab (2012) 0.83
Celiac disease and autoimmune thyroid disease in children with type 1 diabetes mellitus: clinical and HLA-genotyping results. J Clin Res Pediatr Endocrinol (2010) 0.83
Serum pro-hepcidin levels and relationship with ferritin in healthy non-anaemic infants. Acta Haematol (2007) 0.83
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study. Endocrine (2014) 0.83
Prevalence of Factor V 1691 G-A (Leiden) and prothrombin G20210A polymorphisms and the risk of venous thrombosis among cancer patients. J Thromb Thrombolysis (2007) 0.82
C1q nephropathy: a case with severe atopic dermatitis. Pediatr Nephrol (2002) 0.82
Evaluation of hypercoagulability in obese children with thrombin generation test and microparticle release: effect of metabolic parameters. Clin Appl Thromb Hemost (2011) 0.82
Homozygous 23-bp insertion of endothelial protein c receptor gene in a child with fatal sepsis. Pediatr Hematol Oncol (2007) 0.82
Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. Eur J Pediatr (2009) 0.82
Antioxidant superoxide dismutase activity in obese children. Biol Trace Elem Res (2004) 0.82
Effects of growth hormone on growth, insulin resistance and related hormones (ghrelin, leptin and adiponectin) in Turner syndrome. Horm Res (2007) 0.82
Effects on bone mineral density of gonadotropin releasing hormone analogs used in the treatment of central precocious puberty. J Pediatr Endocrinol Metab (2003) 0.82
Dihydrofolate reductase (DHRF) 19-bp intron-1 deletion and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms in breast cancer. Breast Cancer Res Treat (2008) 0.82
Value of pelvic sonography in the diagnosis of various forms of precocious puberty in girls. J Clin Ultrasound (2012) 0.82
The use of pamidronate for acute vitamin D intoxication, clinical experience with three cases. J Pediatr Endocrinol Metab (2015) 0.82
Association of the tumor necrosis factor-alpha -308 G/A polymorphism with nasal polyposis. Eur Arch Otorhinolaryngol (2009) 0.82