Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominated retinopathy, we identified five homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe), and p.(Glu543Lys)] in the polygl

Global Development Fieldwork: A Relational Perspective

Planning agencies and their image production. An investigation into the possibility of architecture as a joint societal concern.

The post-growth economy needs a degrowth vocabulary!

Fysikaliska metoder

Beräkning av ödemvolymen av en arm

Råd vid fettsugning av armlymfödem

"IS IT" - och andra platser

Blodets tron : Macbeth

Efficiency improvements in an industrial steam turbine stage - Part 1

The present work approaches the idea of increasing the efficiency of an industrial steam turbine stage. For this endeavor, an industrial steam turbine stage comprising of prismatic stator and rotor is considered. With the velocity triangles as input, airfoil design is carried out. Firstly, the rotor is redesigned to take care of any incidence issues in the baseline case. In rotor blades, the peak

Using Controlled Active Mass (CAM) to decrease energy demand for cooling

Overheating in summer is a problem in buildings with large glass area and low heat capacity constructive materials. Adding some thermal mass to the building is a way to overcome this problem. A new method is using removable thermal mass. This is called Controlled Active Mass (CAM). The CAM is an extra thermal mass which is placed inside the building to decrease energy demand for cooling and heatin

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease

Background Genome-wide association studies have so far identified 56 loci associated with risk of coronary artery disease (CAD). Many CAD loci show pleiotropy; that is, they are also associated with other diseases or traits. Objectives This study sought to systematically test if genetic variants identified for non-CAD diseases/traits also associate with CAD and to undertake a comprehensive analysi

Vascular disorders of the gastrointestinal tract

Perspective taking effects on (attributions of) political attitudes

Creative Knowledge Environments

Enactment of Education for Sustainable Development - relations between legal norms, professional norms and actions

Multi-horizonted analysis of critical moments in working life of theatre actors in two cultures.

A targeted approach to maintenance of tumour response. Clinical and translational studies in metastatic colorectal cancer.

In metastatic colorectal cancer (mCRC) chemotherapy +/- targeted therapy with palliative intent aims at prolonging survival with sustained quality of life. Maintenance of tumour response by a period of less intense treatment maydelay progression and accumulation of unacceptable toxicity. We studied the combination of targeted treatment with the angiogenesis inhibiting antibody bevacizumab (bev) an

Textual Fluidity in Early Monasticism : Sayings, Sermons and Stories

Varying scopes for doctoral students’ creativity in four disciplines