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Multidetector Ct Technique And Imaging Findings Of Urinary Stone Disease: An Expanded Review
(Turkish Soc Radiology, 2010)
Unenhanced computed tomography (CT) is currently being widely used for the evaluation of patients presenting with acute flank pain. A variety of primary and secondary findings detected on unenhanced CT contribute not only ...
The Effect Of An Exercise Program In Conjunction With Short-Period Patellar Taping On Pain, Electromyogram Activity, And Muscle Strength In Patellofemoral Pain Syndrome
(2010)
Background: McConnell recommended that patellar tape be kept on all day, until patients learn how to activate their vastus medialis obliquus (VMO) during an exercise program. This application may pose problems because ...
Derivative Chromosome 1 And Glut1 Deficiency Syndrome In A Sibling Pair
(2010)
Background Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene ...
Successful Ocreotide and Medium-Chain Triglyceride Therapy for Cylothorax in a Patient with Noonan Syndrome: Case Report
(Ortadogu Ad Pres & Publ Co, 2010)
Noonan syndrome (NS), is an autosomal dominant disorder commonly seen in childhood and is characterized by short stature, congenital heart defects and facial abnormalities (especially in adults) along with thoracic deformity. ...
Whole Exome Sequencing Identifies Recessive Wdr62 Mutations In Severe Brain Malformations
(2010)
The development of the human cerebral cortex is an orchestrated process involving the birth of neural progenitors in the peri-ventricular germinal zones, cell proliferation characterized by both symmetric and asymmetric ...
El Dorsumunda Lokalize İdyopatik Edinsel Akuajenik Keratoderma
(Turkish Soc Dermatology Venerology, 2010)
Acquired aquagenic keratoderma is a rare type of acquired palmoplantar keratoderma localized frequently and symmetrically to palms and occurs following short period of water exposure. A 42-year-old male patient applied to ...
Mutations In 3 Genes (Mks3, Cc2D2A And Rpgrip1L) Cause Coach Syndrome (Joubert Syndrome With Congenital Hepatic Fibrosis)
(B M J Publishing Group, 2010)
Objective To identify genetic causes of COACH syndrome Background COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), ...
Mutation In Exon 1F Of Plec, Leading To Disruption Of Plectin Isoform 1F, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy
(Cell Press, 2010)
Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of inherited muscular disorders manifesting symmetric, proximal, and slowly progressive muscle weakness. Using Affymetrix 250K SNP Array genotyping ...
The Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4C) Study: Objectives, Design, and Methodology
(Amer Soc Nephrology, 2010)
Background and objectives: Children and adolescents with chronic kidney disease (CKD) are at high risk for cardiovascular morbidity and mortality. A systemic arteriopathy and cardiomyopathy has been characterized in pediatric ...