Ara
Toplam kayıt 468, listelenen: 121-130
The Evaluation of First Aid and Basic Life Support Training for the First Year University Students
(Tohoku Univ Medical Press, 2005)
In Turkey, the first aiders are few in quantity and yet they are required in many settings. such as earthquakes. It was thought that training first year university students in first aid and basic life support (FA-BLS) ...
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 ...
A Dna-Pkcs Mutation in A Radiosensitive T-B- Scid Patient Inhibits Artemis Activation And Nonhomologous End-Joining
(Amer Soc Clinical Investigation Inc, 2009)
Radiosensitive T-B- severe combined immunodeficiency (RS-SCID) is caused by defects in the nonhomologous end-joining (NHEJ) DNA repair pathway, which results in failure of functional V(D)J recombination. Here we have ...
A Complex Splicing Defect Associated With Homozygous Ankyrin-Deficient Hereditary Spherocytosis
(Amer Soc Hematology, 2007)
Defects in erythrocyte ankyrin are the most common cause of typical, dominant hereditary spherocytosis (HS). Detection of ankyrin gene mutations has been complicated by allelic heterogeneity, large gene size, frequent de ...
Serum Selenium Levels in Acute Gastroenteritis of Possible Viral Origin
(Oxford Univ Press, 2004)
Selenium, as an essential micronutrient, is required for the proper functioning of the immune system and its deficiency affects the occurrence, virulence, or disease progression of some viral infections. We conducted a ...
Tbx15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
(Cell Press, 2008)
Members of the evolutionarily conserved T-box family of transcription factors are important players in developmental processes that include mesoderm formation and patterning and organogenesis both in vertebrates and ...