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Toplam kayıt 85, listelenen: 51-60
Mutations In The Very Low-Density Lipoprotein Receptor Vldlr Cause Cerebellar Hypoplasia And Quadrupedal Locomotion In Humans
(Natl Acad Sciences, 2008)
Quadrupedal gait in humans, also known as Unertan syndrome, is a rare phenotype associated with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar hypoplasia. Four large consanguineous kindreds ...
Impact Of Obesity On The Risk For Polycystic Ovary Syndrome
(Endocrine Soc, 2008)
Context: Although it is we I I established that adiposity increases the severity of the clinical features of polycystic ovary syndrome (PCOS), the data regarding the prevalence of PCOS in obese women and the change in body ...
Six2 and Bmp4 Mutations Associate with Anomalous Kidney Development
(Amer Soc Nephrology, 2008)
Renal hypodysplasia (RHD) is characterized by reduced kidney size and/or maldevelopment of the renal tissue following abnormal organogenesis. Mutations in renal developmental genes have been identified in a subset of ...
Severe Arterial Thrombophilia Associated with a Homozygous Mthfr Gene Mutation (A1298C) in a Young Man with Klinefelter Syndrome
(Sage Publications Inc, 2008)
Klinefelter syndrome (KS) is the most common sex chromosome disorder in men. It may be associated with an increased risk for venous thrombosis and thromboembolism, which is partially explained by hypofibrinolysis due to ...
Metabolik Sendrom Tanı Kriterleri Hakkında Yaşanan Küresel Kargaşa : Kılavuzların Anlaşamadığı Nokta Nedir ?
(Turkish Soc Cardiology, 2008)
Several international and national associations have proposed their own diagnostic criteria for metabolic syndrome. Regarding the heterogeneity of these guidelines, some authors refused the usage of metabolic syndrome ...
Eular Evidence-Based Recommendations For The Management Of Fibromyalgia Syndrome
(B M J Publishing Group, 2008)
Objective: To develop evidence-based recommendations for the management of fibromyalgia syndrome. Methods: A multidisciplinary task force was formed representing 11 European countries. The design of the study, including ...
Cholangiocarcinoma: A Compact Review Of The Literature
(Baishideng Publ Grp Co Ltd, 2008)
Cholangiocarcinoma (CC) is a devastating cancer arising from biliary epithelia. Unfortunately, the incidence of this disease is increasing in Western countries. These tumors progress insidiously, and liver failure, biliary ...
Primary Sclerosing Cholangitis - What Is The Difference Between East and West?
(Baishideng Publishing Group Inc, 2008)
Primary sclerosing cholangitis (PSC) is a chronic, progressive, cholestatic liver disease characterized by inflammation and fibrotic obliteration of the hepatic biliary tree. It is commonly associated with inflammatory ...