Ara
Toplam kayıt 51, listelenen: 21-30
Hyper-Igm Syndrome Type 4 With A B Lymphocyte-Intrinsic Selective Deficiency In Ig Class-Switch Recombination
(Amer Soc Clinical Investigation Inc, 2003)
Hyper-IgM syndrome (HIGM) is a heterogeneous condition characterized by impaired Ig class-switch recombination (CSR). The molecular defects that have so far been associated with this syndrome which affect the CD40 ligand ...
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder
(Cell Press, 2003)
Genome scans of bipolar disorder (BPD) have not produced consistent evidence for linkage. The rank-based genome scan meta-analysis (GSMA) method was applied to 18 BPD genome scan data sets in an effort to identify regions ...
Comparison Of Three Different Sit And Reach Tests For Measurement Of Hamstring Flexibility In Female University Students
(British Med Journal Publ Group, 2003)
Background: The sit and reach test is the most common flexibility test used in health related fitness test batteries. Objective: To examine and compare three different sit and reach tests as a measure of hamstring flexibility ...
Mutations In A Gene Encoding A Novel Sh3/Tpr Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
(Univ Chicago Press, 2003)
Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology. CMT4C is inherited ...
Mutational Analysis Of The Xanthine Dehydrogenase Gene In A Turkish Family With Autosomal Recessive Classical Xanthinuria
(Oxford Univ Press, 2003)
Background. Classical xanthinuria is classified into two categories: type I, deficient only in xanthine dehydrogenase (XDH) activity; and type II, deficient in both XDH and aldehyde oxidase. Both types present mainly with ...
Comprehensive Isokinetic Knee Measurements And Quadriceps Tendon Evaluations In Footballers For Assessing Functional Performance
(B M J Publishing Group, 2003)
Objectives: To ascertain whether detailed isokinetic knee muscle testing reflects the results of other functional measurements in footballers and to look for any correlations between quadriceps tendon thickness and knee ...
Successful Treatment with Interferon Alfa in Infiltrating Angiolipoma: A Case Presenting with Kasabach-Merritt Syndrome
(British Med Journal Publ Group, 2003)
We report a case of infiltrating angiolipoma who presented with a large mass on the shoulder and the signs of Kasabach-Merritt syndrome. She improved dramatically within one month and the mass completely disappeared after ...
Mutations In The Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis And Infantile Systemic Hyalinosis
(Univ Chicago Press, 2003)
Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline ...