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Toplam kayıt 398, listelenen: 81-100
Genetic Spectrum Of Hereditary Neuropathies With Onset In The First Year Of Life
(2011)
Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine–Sottas neuropathy starting in ...
Clinical Heterogeneity And Diagnostic Delay Of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome
(Academic Press Inc Elsevier Science, 2011)
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, ...
Exome Sequencing And Cis-Regulatory Mapping Identify Mutations In Mak, A Gene Encoding A Regulator Of Ciliary Length, As A Cause Of Retinitis Pigmentosa
(Cell Press, 2011)
A fundamental challenge in analyzing exome-sequence data is distinguishing pathogenic mutations from background polymorphisms. To address this problem in the context of a genetically heterogeneous disease, retinitis ...
Craniosynostosis And Multiple Skeletal Anomalies In Humans And Zebrafish Result From A Defect In The Localized Degradation Of Retinoic Acid
(Cell Press, 2011)
Excess exogenous retinoic acid (RA) has been well documented to have teratogenic effects in the limb and craniofacial skeleton. Malformations that have been observed in this context include craniosynostosis, a common ...
Evaluation Of Diagnostic Accuracy Of Portable Echocardiography In Newborns
(Aves Yayincilik, 2011)
Objective: Congenital heart disease is the most common life-threatening anomaly in the neonatal period. Screening for this disease with portable echocardiography is crucial to diagnose in the early period, and it has ...
Gnrh Stimulation Test In Precocious Puberty: Single Sample Is Adequate For Diagnosis And Dose Adjustment
(2011)
Objective: Gonadotropin stimulation test is the gold standard to document precocious puberty. However, the test is costly, time-consuming and uncomfortable. The aim of this study was to simplify the intravenous ...
Elizabethkingia Meningosepticum (Chryseobacterium Meningosepticum) Infections In Children
(2011)
Chryseobacterium meningosepticum is a ubiquitous Gram-negative bacillus historically associated primarily with meningitis in neonates and a wide variety of infections in immunocompromised patients. Neonatal infections often ...
Clinical Characteristics And Antibiotic Resistance Of Shigella Gastroenteritis In Ankara, Turkey Between 2003 And 2009, And Comparison With Previous Reportsinfo:eu-repo/semantics/publishedVersion
(Elsevier Sci Ltd, 2011)
Objectives: The aim of this study was to define the epidemiological, clinical, and antibiotic susceptibility patterns of Shigella gastroenteritis cases occurring during the years 2003-2009 and to compare results with those ...
Coq6 Mutations In Human Patients Produce Nephrotic Syndrome With Sensorineural Deafness
(Amer Soc Clinical Investigation Inc, 2011)
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and ...
Disruption of Ptpro Causes Childhood-Onset Nephrotic Syndrome
(Cell Press, 2011)
Idiopathic nephrotic syndrome (INS) is a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema. Because it typically results in end-stage kidney disease, the steroid-resistant ...
Induction Of Ros, P53, P21 In Dehp- And Mehp-Exposed Lncap Cells-Protection By Selenium Compounds
(Pergamon-Elsevier Science Ltd, 2011)
This study was designed to investigate the hypothesis that the toxic effects of di(2-ethylhexyl)phthalate (DEHP), the most abundantly used plasticizer and ubiquitous environmental contaminant that cause alterations in ...
Hplc Fingerprinting Of Sennosides In Laxative Drugs With Isolation Of Standard Substances From Some Senna Leaves
(Acg Publications, 2011)
Senna leaves are one of the oldest medicinal herbs and they are used as laxative. Herbal teas which contain senna leaves are most commonly used to promote weight loss. The quality control of slimming teas which contain ...
10-Year Evaluation Of Train Accidents
(Turkish Assoc Trauma Emergency Surgery, 2011)
BACKGROUND Although less frequent than automobile accidents, train accidents have a major impact on victims' lives. METHODS Records of patients older than 16 years of age admitted to the Adult Emergency Department of ...