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Toplam kayıt 177, listelenen: 1-10
Genetic Screening In Adolescents With Steroid-Resistant Nephrotic Syndrome
(Elsevier Science Inc, 2013)
Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent ...
Genetic Basis Of Hyperlysinemia
(2013)
Background Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better ...
IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database
(Wiley, 2013)
IL-12R1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12R1 is a receptor chain of ...
25-Oh-Vitamin D and Procalcitonin Levels After Correction of Acute Hyperglycemia
(2013)
Background Hyperglycemia is a common complication of diabetes melitis (DM) and in the absence of metabolic decompensation is a common finding in the Emergency Department (ED). We aimed to evaluate the 25 OH Vit D [25(OH)D] ...
Challenges In Identifying Asthma Subgroups Using Unsupervised Statistical Learning Techniques
(Amer Thoracic Soc, 2013)
Rationale: Unsupervised statistical learning techniques, such as exploratory factor analysis (EFA) and hierarchical clustering (HC), have been used to identify asthma phenotypes, with partly consistent results. Some of the ...
A Model of Complaint Based for Overcrowding Emergency Department: Five-Level Hacettepe Emergency Triage System
(Turkish Assoc Trauma Emergency Surgery, 2013)
BACKGROUND To compare ESI Five-Level Triage System with 5-Level Hacettepe Emergency Triage System (HETS), which was developed for Overcrowded EDs in our country. METHODS Over a period of six days, patients were assessed ...
Changes And Determinants In Under-Five Mortality Rate In Turkey Since 1988
(Natl Inst Public Health, 2013)
Child survival is the focus of the fourth Millenium Developmental Goal (MDG4). This paper describes levels, trends, and differentials in Under-Five Mortality Rate (U5MR) and also summarizes state programmes in Turkey between ...
Deciphering The Glycosylome Of Dystroglycanopathies Using Haploid Screens For Lassa Virus Entry
(Amer Assoc Advancement Science, 2013)
Glycosylated alpha-dystroglycan (alpha-DG) serves as cellular entry receptor for multiple pathogens, and defects in its glycosylation cause hereditary Walker-Warburg syndrome (WWS). At least eight proteins are critical to ...