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Toplam kayıt 73, listelenen: 21-30
De novo 8p23.1 deletion in a patient with absence epilepsy
(John Libbey Eurotext, 2017)
The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, ...
Semi-rational design of geobacillus stearothermophilus l-lactate dehydrogenase to access various chiral ?-hydroxy acids
(Springer, 2016)
Chiral ?-hydroxy acids (AHAs) are rapidly becoming important synthetic building blocks, in particular for the production of pharmaceuticals and other fine chemicals. Chiral compounds of a variety of functionalities are now ...
The molecular genetics of von willebrand disease
(2012)
Quantitative and/or qualitative deficiency of von Willebrand factor (vWF) is associated with the most common inherited bleeding disease von Willebrand disease (vWD). vWD is a complex disease with clinical and genetic ...
p60-katanin: a novel interacting partner for p53
(Springer, 2020)
Katanin, one of the best-characterized microtubule (MT) severing proteins, is composed of two subunits: catalytic p60-katanin, and regulatory p80-katanin. p60-katanin triggers MT reorganization by severing them. MT ...
Easy stabilization of interfacially activated lipases using heterofunctional divinyl sulfone activated-octyl agarose beads. Modulation of the immobilized enzymes by altering their nanoenvironment
(Elsevier, 2016)
Octyl-agarose is a support that permits the one step immobilization, stabilization and purification of lipases. However, the enzyme may be released from the support under drastic conditions. This paper describes a new ...
Gene therapy in haemophilia: literature review and regional perspectives for Turkey
(SAGE Publications Ltd, 2022)
Haemophilia is an X-linked lifelong congenital bleeding disorder that is caused by insufficient levels of factor VIII (FVIII; haemophilia A) or factor IX (FIX; haemophilia B) and characterized by spontaneous and trauma-related ...
Effect of Plant Oil-Based Crosslinker on Drug Release Behaviour of Hydrogels
(IEEE, 2017)
Thermoresponsive hydrogels have great potential in biomedical applications such as drug delivery systems and tissue engineering. Synthesis of hydrogels from renewable resources attracts attention day by day. In this study ...
SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations
(Elsevier, 2016)
Purpose: The SCN1A gene is one of the most commonly mutated human epilepsy genes associated with a spectrum of phenotypes with variable degrees of severity. Despite over 1200 distinct mutations reported, it is still hard ...