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Toplam kayıt 22, listelenen: 1-10
Identification Of Two Novel Pnpla1 Mutations In Turkish Families With Autosomal Recessive Congenital Ichthyosis
(Turkish J Pediatrics, 2017)
Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited keratinization disorders that are characterized by abnormal epidermal keratinization. ARCI patients generally represent serious symptoms including ...
Novel Pathogenic Variants Underlie Slc26A4-Related Hearing Loss In A Multiethnic Cohort
(Elsevier Ireland Ltd, 2017)
Objectives: The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common ...
Why And When To Prefer Botulinum Toxin Injection In Childhood Strabismus?
(Turkish J Pediatrics, 2017)
The aim of this study was to investigate the indications and outcomes of botulinum toxin injection in children with strabismus. The medical records of children who underwent botulinum toxin injection were reviewed. Eighteen ...
Ewing'S Sarcoma Of The Mandible Misdiagnosed As Periodontal Inflammation: Report Of Three Cases
(Turkish J Pediatrics, 2017)
Ewing's sarcoma (ES) is the second most common childhood primary malignant tumor of the bone. The most popular locations of ES are long bones and pelvis. The involvement of the mandible is very rare in childhood. In last ...
Does Nissen Fundoplication Improve Deglutition In Children?
(Turkish J Pediatrics, 2017)
A prospective study was performed to evaluate the effect of Nissen fundoplication (NF) on deglutition in children. Children who underwent NF between 2011-2015 were evaluated for demographic features, clinical findings, ...
Evaluation Of Surgically Treated Breast Masses In Children
(Turkish J Pediatrics, 2017)
We aimed to define the diagnostic and treatment characteristics of breast masses among female children who had undergone surgical treatment in order to figure out which children should be followed conservatively or treated ...
Genetic Landscape Of Congenital Myasthenic Syndromes From Turkey: Novel Mutations And Clinical Insights
(Sage Publications Inc, 2017)
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the ...
Evaluation Of Tissue Doppler Echocardiographic Imaging Findings In Children With Pulmonary Hypertension
(Turkish J Pediatrics, 2017)
Tissue Doppler Imaging has become an important prognostic marker that can be used in follow-up and determination of the prognosis in pulmonary hypertension patients. We compared the Tissue Doppler imaging parameters of 34 ...
Comparison Of Weight Estimation Methods And Evaluation Of Usability Of Broselow Luten Tape In Turkish Children
(Turkish J Pediatrics, 2017)
It is controversial which method is more reliable for weight estimation of a child in an emergent situation. The aim of this study is to compare different methods and to review the applicability of Broselow Luten tape for ...