The Turkish Journal of Pediatrics
Smilar Issues: 46 Record Found
Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis Abstract Similar Articles Mail to Editor Alpha-mannosidosis and mutational analysis in a Turkish patient Abstract Similar Articles Mail to Editor Trauma as a risk factor for thrombosis in children: A report of three cases Abstract Similar Articles Mail to Editor Defective anti-polysaccharide antibody response in patients with ataxia-telangiectasia Abstract Similar Articles Mail to Editor A new concept of skeletal dysplasias Abstract Similar Articles Mail to Editor Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy Abstract Similar Articles Mail to Editor Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations Abstract Similar Articles Mail to Editor Chronic hereditary pancreatitis with N29I mutation in a Turkish child Abstract Similar Articles Mail to Editor Catheter-associated recurrent intracardiac thrombosis and factor V Leiden mutation in a child with non-Hodgkin’s lymphoma Abstract Similar Articles Mail to Editor A novel mutation leading to a deletion in the SH3 domain of Bruton’s tyrosine kinase Abstract Similar Articles Mail to Editor A rare cause of neonatal seizure: incontinentia pigmenti Abstract Similar Articles Mail to Editor Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract Abstract Similar Articles Mail to Editor A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC) Abstract Similar Articles Mail to Editor A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome Abstract Similar Articles Mail to Editor Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene Abstract Similar Articles Mail to Editor Resistance to thyroid hormone in a Turkish child with A317T mutation in the thyroid hormone receptor-beta gene Abstract Similar Articles Mail to Editor Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype Abstract Similar Articles Mail to Editor HAX1 mutation in an infant with severe congenital neutropenia Abstract Similar Articles Mail to Editor Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family Abstract Similar Articles Mail to Editor Two Cases of LEOPARD Syndrome – RAF1 Mutations Firstly Described in Children Abstract Similar Articles Mail to Editor Joubert Syndrome: Report of 11 Cases Abstract Similar Articles Mail to Editor A Novel OCRL1 Gene Mutation in a Turkish Child with Lowe Syndrome Abstract Similar Articles Mail to Editor Selective Proximal Renal Tubular Involvement and Dyslipidemia in Two Cousins with Oculocerebrorenal Syndrome of Lowe Abstract Similar Articles Mail to Editor Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4) Abstract Similar Articles Mail to Editor Relation between microalbuminuria and gene mutations in familial Mediterranean fever Abstract Similar Articles Mail to Editor Three Cases of a Rare Disease, Congenital Chloride Diarrhea, Summons Up the Variation in the Clinical Course and Significance of Early Diagnosis and Adequate Treatment in the Prevention of Intellectual Disability Abstract Similar Articles Mail to Editor Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review Abstract Similar Articles Mail to Editor Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy Abstract Similar Articles Mail to Editor Chanarin–Dorfman Syndrome: A Novel Mutation in a Turkish Girl Abstract Similar Articles Mail to Editor Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey Abstract Similar Articles Mail to Editor “Silent” β-thalassemia mutation (promoter nt-101 C > T) with increased hemoglobin A2 Abstract Similar Articles Mail to Editor Recessive congenital methemoglobinemia in immediate generations Abstract Similar Articles Mail to Editor A novel mutation in a case of pseudohypoparathyroidism type Ia Abstract Similar Articles Mail to Editor A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures Abstract Similar Articles Mail to Editor Familial mutation in Caffey disease with reduced penetrance: A case report Abstract Similar Articles Mail to Editor A Turkish BCS1L mutation causes GRACILE-like disorder Abstract Similar Articles Mail to Editor p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency Abstract Similar Articles Mail to Editor Conventional insulin pump therapy in two neonatal diabetes patients harboring the homozygous PTF1A enhancer mutation: Need for a novel approach for the management of neonatal diabetes Abstract Similar Articles Mail to Editor Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis Abstract Similar Articles Mail to Editor Child with RET proto-oncogene codon 634 mutation Abstract Similar Articles Mail to Editor A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis Abstract Similar Articles Mail to Editor GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria Abstract Similar Articles Mail to Editor A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis Abstract Similar Articles Mail to Editor Investigation of antiviral resistance and escape mutations in children with naive chronic hepatitis B patients and their parents Abstract Similar Articles Mail to Editor A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment Abstract Similar Articles Mail to Editor A patient heterozygous for R92Q mutation with periodic fever and aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-like phenotype Abstract Similar Articles Mail to Editor
Copyright © 2016 turkishjournalpediatrics.org