The Turkish Journal of Pediatrics
Smilar Issues: 160 Record Found
Mutation analysis of TSC2 gene in 33 Turkish familial cases with
tuberous sclerosis
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Byler's disease and anesthetic consideration
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Neonatal screening
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The effect of mannose-binding protein gene polymorphisms in recurrent respiratory system infections in children and lung tuberculosis
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Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene
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Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients
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Inherited disorders of neonatal lung diseases
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Maternal vitamin D deficiency and vitamin D supplementation in healthy infants
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Wegener's granulomatosis in a 15-year-old boy
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A new concept of skeletal dysplasias
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The incidence and risk factors of neural tube defects in
Izmir, Turkey: a nested case-control study
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Alternative prognostic factors in pediatric embryonal rhabdomyosarcoma: Nm23 expression, proliferative activity and angiogenesis
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The clinical and radiological assessment of cyclic intravenous pamidronate administration in children with osteogenesis imperfecta
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Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy
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Renal tubular dysgenesis-a case presentation
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Meckel-Gruber syndrome associated with gastrointestinal tractus anomaly
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Encopresis: long-term clinical outcome of 67 cases
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An anencephalic monocephalus diprosopus “headed twin”: postmortem and CT findings with emphasis on the cranial bones
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Familial ureteroceles: an evidence for genetic background?
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Unilateral pulmonary agenesis associated with colloidal goiter in a newborn: a case report
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Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population
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Pediatric obstructive sleep apnea syndrome and anesthetic management
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Variable expressivity of congenital longitudinal radial deficiency and spinal dysraphism in monozygotic twins
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A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4
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Low-dose intravenous pamidronate treatment in osteogenesis imperfecta
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A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies
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ACE gene deletion/deletion polymorphism may be a protective factor for respiratory distress in preterm infants
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Genetic factors in neonatal hyperbilirubinemia and kernicterus
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Association between mannose binding lectin polymorphisms and predisposition to bacterial meningitis
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A rare cause of neonatal seizure: incontinentia pigmenti
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Application of medical genetics in Turkey
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Correlation between vascular endothelial growth factor and leptin in children with cyanotic congenital heart disease
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A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC)
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What next in necrotizing enterocolitis?
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Vitamin D receptor gene polymorphisms in Turkish children with vitamin D deficient rickets
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Genetic dilemma: eNOS gene intron 4a/b VNTR polymorphism in sepsis and its clinical features in Turkish children
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Mild Clinical Phenotype and Subtle Radiographic Findings in an Infant with Cartilage-Hair Hypoplasia
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Pregnancy and Delivery Complications and Treatment Approach in Attention Deficit Hyperactivity Disorder
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Kabuki make-up syndrome with unilateral renal agenesis
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A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome
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Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene
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Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report
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Tumor necrosis factor alpha -308 gene polymorphism in patients with anorexia nervosa
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Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation
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Association Between the Glu298Asp and T(-786)C Polymorphisms of the Endothelial Nitric Oxide Synthase Gene and Respiratory Distress in Preterm Neonates
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Two Cases with Megalencephalic Leukoencephalopathy with Subcortical Cysts and MLC1 Mutations in the Turkish Population
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Clinical Course of Primary Focal Segmental Glomerulosclerosis (FSGS) in Turkish Children:A Report from the Turkish Pediatric Nephrology FSGS Study Group
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Home Mechanical Ventilation: Outcomes According to Remoteness from Health Center and Different Family Education Levels
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Meningococcal Disease in Children: A Clinical Review
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Pediatric Tracheotomy: 3-Year Experience at a Tertiary Care Center with 54 Children
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Isolated Pericardial Agenesis Revealed by Bradycardia and Heart MRI in a Healthy 5-Year-Old Child
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Transforming Growth Factor-Beta1 (509 C/T, 915 G/C, 869 T/C) Polymorphisms Are Not Related to Obesity in Turkish Children
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Leptin Receptor Gene Gln223Arg Polymorphism is not Associated with Obesity and Metabolic Syndrome in Turkish Children
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Sjögren-Larsson Syndrome: Report of Monozygote Twins and a Case with a Novel Mutation
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Ganglioneuroma in a Child with Hereditary Spherocytosis
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Rubella Vaccination during the Preconception Period or in Pregnancy and Perinatal and Fetal Outcomes
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A Case of Mowat-Wilson Syndrome Caused by a Truncating Mutation within Exon 8 of the ZEB2 Gene
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The MEFV gene and clonal myeloid disorders
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Association between C677T and A1298C MTHFR Gene Polymorphism and Nonsyndromic Orofacial Clefts in the Turkish Population: A Case-Parent Study
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A Novel OCRL1 Gene Mutation in a Turkish Child with Lowe Syndrome
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Thyroid Hormone Resistance: A Novel Mutation in Thyroid Hormone Receptor Beta (THRB) Gene - Case Report
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Short- and Long-Term Effects of Individualized Enteral Protein Supplementation in Preterm Newborns
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Late Neonatal Hypocalcemic Tetany as a Manifestation of Unrecognized Maternal Primary Hyperparathyroidism
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Renal outcome of children with unilateral renal agenesis
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Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation
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The first case of Bruck syndrome associated with gastroschisis
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An Uncommon Disorder with Multiple Skeletal Anomalies: Gorlin-Goltz Syndrome
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Jervell and Lange-Nielsen Syndrome with Homozygous Missense Mutation of the KCNQ1 Gene
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Mannose-Binding Lectin May Affect Pregnancy Outcome
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Neonates with Inborn Errors of Metabolism: Spectrum and Short-Term Outcomes at a Tertiary Care Hospital
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Childhood Epilepsy with Occipital Paroxysm: Classification, Atypical Evolution and Long-Term Prognosis in 35 Patients
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Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia
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Relation between microalbuminuria and gene mutations in familial Mediterranean fever
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Ataxia with vitamin E deficiency associated with deafness
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A causal relationship between UDP-glucuronosyltransferase 1A1 promoter polymorphism and idiopathic hyperbilirubinemia in Turkish newborns
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Enzyme Replacement Therapy with Galsulfase for Mucopolysaccharidosis VI: Clinical Facts and Figures
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Propranolol for Infantile Hemangiomas: A Preliminary Report on Efficacy and Safety in Very Low Weight Infants
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Novel Nonsense Mutation of GPC3 Gene in a Patient with Simpson-Golabi-Behmel Syndrome
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The EEC Syndrome and SHFM: Report of Two Cases and Mutation Analysis of p63 Gene
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An Extremely Rare Cause of Generalized Lymphadenopathy in Children: Kimura's Disease
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Assessment of "General Movements" in High-Risk Infants by Prechtl Analysis During Early Intervention Period in the First Year of Life
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Meconium Aspiration Syndrome: Do We Know?
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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
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Localized Acute Generalized Exanthematous Pustulosis with Amoxicillin and Clavulanic Acid
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Outcome of Enzyme Replacement Therapy in Turkish Patients with Gaucher Disease: Does Late Intervention Affect the Response
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Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review
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Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy
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Myopia, Visual Acuity and Strabismus in the Long Term Following Treatment of Retinopathy of Prematurity
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Comparison of the BD GeneOhm VanR Assay and a Chromogenic Agar-Based Culture Method in Screening for Vancomycin-Resistant Enterococci in Rectal Specimens of Pediatric Hematology-Oncology Patients
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Turkish Cases of Early Infantile Epileptic Encephalopathy: Two Novel Mutations in the Cyclin-Dependent Kinase-Like 5 (CDKL5) Gene
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An Easily Missed Diagnosis: 17-Alpha-Hydroxylase/17,20-Lyase Deficiency
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Molecular Diagnosis of Fanconi Anemia with Next-Generation Sequencing in a Case with Subtle Signs and a Negative Chromosomal Breakage Test
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TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Presenting with Exaggerated Startle Response: Report of Two Cases in a Family
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Surgical and clinical strategies in the management of thyroid medullary carcinoma in children with and without ret proto-oncogene mutations
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Two newborn babies with generalized arterial calcification of infancy, two new mutations
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Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients?
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Recessive congenital methemoglobinemia in immediate generations
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A novel mutation in a case of pseudohypoparathyroidism type Ia
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A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures
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The comparison of general movements assessment and neurological examination during early infancy
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Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis
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Congenital insensitivity to pain: How should anesthesia be managed?
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An infant with glutaric aciduria type IIc diagnosed with a novel mutation
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Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation
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Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2
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Systems-level analysis of genome wide association study results for a pilot juvenile idiopathic arthritis family study
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Hemolytic uremic syndrome with multiple organ involvement secondary to complement factor H p.Arg1215X mutation
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Child with RET proto-oncogene codon 634 mutation
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Epidemiological features and risks of hemangiomas
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Frequency of thiopurine S-methyltransferase gene variations in Turkish children with acute leukemia
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Autism spectrum disorder and beta thalassemia minor: A genetic link?
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Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia
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Posttraumatic stress disorder symptoms in children exposed to circumcision under general or local anesthesia
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A novel evaluation of genetic polymorphism in BCG adenitis
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A rare chromosomal disorder in a newborn: Trisomy 3q
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Giant axonal neuropathy: A differential diagnosis of consideration
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The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome
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A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient
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A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review
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A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review
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A rare cause of acute abdominal pain in a patient with Primary ciliary dyskinesia with situs inversus totalis
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Increased potassium excretion in children with monosymptomatic nocturnal enuresis: could it be related to Kir 4.1- KCNJ10 gene polymorphism?
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Congenital afibrinogenemia in a 4-year-old girl complicated with acute lymphoblastic leukemia
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Pediatric case of persistent hiccups associated with hypertrophic olivary degeneration
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Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene
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Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia
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Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings
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Atypical presentation in patients with 17 α-hydroxylase deficiency caused by a deletion in the CYP17A1 gene: short stature
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Uncoupling protein gene UCP1-3826A/G, UCP2 Ins/Del and UCP3-55C/T polymorphisms in obese Turkish children
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Nasopharyngeal carcinoma in a child with Kartagener`s syndrome
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The general movements assessment and effects of an early intervention in an infant with Cri du chat syndrome: a case report
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Altered gut microbiota is associated with feeding intolerance in preterm infants
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Thrombin generation in children with febrile neutropenia
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The assesment of prothrombotic potential using thrombin generation assay in pediatric patients with nephrotic syndrome: preliminary study
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Demographic, ocular and associated neurological findings in corpus callosum malformations
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A rare case of juvenile amyotrophic lateral sclerosis
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Whole exome sequencing identifies a novel variant in ABCA3 in an individual with fatal congenital surfactant protein deficiency
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A fatal interstitial lung disease in an anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibody negative patient with juvenile dermatomyositis
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Turkish reference ranges for the left fetal modified myocardial performance index
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The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma
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Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood
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Clinical and molecular findings in 6 Turkish cases with Krabbe disease
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A case of aplasia cutis congenita following fetal reduction of triplet pregnancy conceived through in vitro fertilization
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Identification of candidate genes in a family with cancer overload by whole-exome sequencing
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The association of angiotensin-converting enzyme gene polymorphism with respiratory distress syndrome in premature neonates
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Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
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A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant
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Recovery of cyanosis after esophageal intubation in a neonate with tracheal agenesis: a case report
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Comparison of miRNA expression in patients with seasonal and perennial allergic rhinitis and non-atopic asthma
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Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I
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Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant
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A rare case of Klippel-Trenaunay syndrome presenting with chronic myeloid leukemia
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A rare entity in a pediatric patient: coexistence of emphysematous cystitis and emphysematous pyelonephritis
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Evaluation of common NLRP3 Q703K variant in pediatric patients with autoinflammatory disease: CAPS and PFAPA
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Clinical application of metagenomic next-generation sequencing in purulent meningitis: a case seri
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Evaluation of toll-like receptors 2 and 4 polymorphism and intestinal microbiota in children with food allergies
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A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report
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Early neonatal outcomes in infants of mothers with organ transplantation under immunosuppressive treatment
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Comparison of the adolescent pregnancy outcomes between refugees and Turkish citizens
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Camptodactyly-arthropathy-coxa vara-pericarditis syndrome and an unusual association with mitral stenosis
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