The Turkish Journal of Pediatrics
Smilar Issues: 67 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
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations
Abstract
Similar Articles
Mail to Editor
A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome
Abstract
Similar Articles
Mail to Editor
A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome
Abstract
Similar Articles
Mail to Editor
A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy
Abstract
Similar Articles
Mail to Editor
Unusual and early onset IPEX syndrome: a case report
Abstract
Similar Articles
Mail to Editor
Long-term follow-up results of patients with ADCK4 mutations who have been diagnosed in the asymptomatic period: effects of early initiation of CoQ10 supplementation
Abstract
Similar Articles
Mail to Editor
A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review
Abstract
Similar Articles
Mail to Editor
Novel mutation and severe respiratory failure in congenital disorders of glycosylation Type Ix
Abstract
Similar Articles
Mail to Editor
A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review
Abstract
Similar Articles
Mail to Editor
A rare case of syndromic severe congenital neutropenia: JAGN1 mutation
Abstract
Similar Articles
Mail to Editor
Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay
Abstract
Similar Articles
Mail to Editor
Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings
Abstract
Similar Articles
Mail to Editor
SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype
Abstract
Similar Articles
Mail to Editor
Neonatal diabetes mellitus due to a new KCNJ11 mutation - 10 years of the patient`s follow-up
Abstract
Similar Articles
Mail to Editor
Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature
Abstract
Similar Articles
Mail to Editor
Identification of candidate genes in a family with cancer overload by whole-exome sequencing
Abstract
Similar Articles
Mail to Editor
Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
Abstract
Similar Articles
Mail to Editor
A pediatric bithalamic high grade glioma with concomitant H3K27M and EGFR mutations
Abstract
Similar Articles
Mail to Editor
Sirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena
Abstract
Similar Articles
Mail to Editor
Phenotypic and genotypic characteristics of children with Bartter syndrome
Abstract
Similar Articles
Mail to Editor
Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant
Abstract
Similar Articles
Mail to Editor