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Toplam kayıt 163, listelenen: 11-20
Ateş Hissinin Doğruluğu ve Dokunarak Ateş Tahmini
(Ortadogu Ad Pres & Publ Co, 2012)
Objective: Fever is one of the most common causes of hospital admissions. In presence of fever, a number of laboratory tests, radiological imaging and treatment are considered. The aim of this study is to investigate the ...
Haploinsufficiency Of A Spliceosomal Gtpase Encoded By Eftud2 Causes Mandibulofacial Dysostosis With Microcephaly
(Cell Press, 2012)
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including ...
Guidelines For The Genetic Diagnosis Of Hereditary Recurrent Fevers
(2012)
Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the ...
International Consensus on (Icon) Pediatric Asthma
(Wiley, 2012)
Asthma is the most common chronic lower respiratory disease in childhood throughout the world. Several guidelines and/or consensus documents are available to support medical decisions on pediatric asthma. Although there ...
Different Features Of Lung Involvement In Niemann-Pick Disease And Gaucher Disease
(W B Saunders Co Ltd, 2012)
Background: Niemann-Pick disease (NPD) and Gaucher disease (GD) are well-known lysosomal storage diseases. Respiratory system involvement is an important cause of morbidity and mortality in patients with NPD and GD. ...
Hypophosphatasia Presenting With Pyridoxine-Responsive Seizures, Hypercalcemia, And Pseudotumor Cerebri: Case Report
(2012)
Hypophosphatasia (HPP) is an inborn error of metabolism characterized by defective bone mineralization caused by a deficiency in alkaline phosphatase (ALP) activity due to mutations in the tissue-nonspecific ALP (TNALP) ...