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Toplam kayıt 466, listelenen: 21-30
Ahi1 Mutations Cause Both Retinal Dystrophy and Renal Cystic Disease in Joubert Syndrome
(B M J Publishing Group, 2006)
Background: Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar ...
Biologic Therapy in Primary Systemic Vasculitis of the Young
(Oxford Univ Press, 2009)
Methods. This was a retrospective descriptive case series of children with PSV treated with biologic therapy between February 2002 and November 2007. Primary retrospective outcome assessment measures were: daily corticosteroid ...
Eisenmenger Syndrome: Identifying The Clues For Arrhythmia
(Turkish Soc Cardiology, 2008)
Objective: The aim of this case-controlled, cross-sectional study is to investigate the tendency towards arrhythmia using noninvasive arrhythmia markers (QT dispersion and heart rate variability) in children with Eisenmenger ...
Extensive Scanning Of The Calpain-3 Gene Broadens The Spectrum Of Lgmd2A Phenotypes
(B M J Publishing Group, 2005)
Background: The limb girdle muscular dystrophies ( LGMD) are a heterogeneous group of Mendelian disorders highlighted by weakness of the pelvic and shoulder girdle muscles. Seventeen autosomal loci have been so far identified ...
Evidence From Autoimmune Thyroiditis Of Skewed X-Chromosome Inactivation In Female Predisposition To Autoimmunity
(Nature Publishing Group, 2006)
The etiologic factors in the development of autoimmune thyroid diseases (AITDs) are not fully understood. We investigated the role of skewed X-chromosome inactivation (XCI) mosaicism in female predisposition to AITDs. One ...
High Cystine In Platelets From Patients With Nephropathic Cystinosis: A Chemical, Ultrastructural, And Functional Evaluation
(B M J Publishing Group, 2005)
Aim: To investigate the morphology and function of platelets in nephropathic cystinosis (NC). Methods: Seven patients ( mean age, 6.5 years; SD, 20 months) with NC were investigated. Their platelets were examined by ...
Histological Response To Injected Gluteraldehyde Cross-Linked Bovine Collagen Based Implant In A Rat Model
(2006)
Background The aim of present study is to investigate the short and long term histopathological alterations caused by submucosal injection of gluteraldehyde cross-linked bovine collagen based on an experimental rat model. ...
Highlights In Cellular And Molecular Mechanisms Of Allergic Diseases - Xxvth Congress Of The European Academy Of Allergology And Clinical Immunology In Vienna
(Karger, 2007)
This year, the annual congress of the European Academy of Allergology and Clinical Immunology was held on 10-14 June in Vienna. More than 6,000 delegates, practicing bench or bedside work or both, gathered from over 50 ...
Effects Of Leptin On Intake Of Specific Micro- And Macronutrients In A Woman With Leptin Gene Deficiency Studied Off And On Leptin At Stable Body Weight
(Academic Press Ltd Elsevier Science Ltd, 2007)
In this report, we examine the effects of leptin on the intake of specific macro- and micronutrients in a female patient with leptin gene deficiency. The patient was studied off and on leptin at stable body weight, within ...