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CHARGE syndrome is a disorder characterized by Coloboma, Heart defect, Atresia choanae, Retarded growth and/or development, Genital hypoplasia and Ear anomalies. Heterozygous mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene have been identified in about 60% of individuals diagnosed with CHARGE syndrome. We performed a CHD7 mutation screening by direct exon sequencing in 28
In the existing literature on welfare state typologies, the concept of the universal welfare state is not defined precisely enough to allow for comparisons of universality over time and between countries. In this paper, I discuss some problems with the way the term 'the universal welfare state' has been used and I suggest possible solutions. Among other things, I propose that the term 'universalit
OBJECTIVE: to investigate the factors that influence the experience of mothers and fathers when they have chosen to return home, earlier than is the normal routine, following the birth of their baby. DESIGN: a qualitative study, using open interviews, was undertaken. The text of the transcripts was coded and categorised according to the grounded theory method using constant comparative analysis. S
The proper use and exchange of the right packaging-related information in a grocery supply chain is critical to achieve an efficient and responsive packaging logistics system. The use of well-defined packaging-related information that is available for all actors in the supply chain also facilitates an integrated and supply chain-orientated packaging development. The objective of this paper is to d
The implementation of the Rio protocol and the preservation of biodiversity at national and regional level is an important step in achieving a sustainable forestry. This is indeed a challenging task since our knowledge of the ecology and habitat demands for but a few species is severely restricted. Research in the last years show that forest species have very different qualitative and spatial dema
The genetic background of cutaneous malignant melanoma (CMM) includes both germ line aberrations in high-penetrance genes, like CDKN2A, and allelic variation in low-penetrance genes like the melanocortin-1 receptor gene, MC1R. Red-hair colour associated MC1R alleles (RHC) have been associated with red hair, fair skin and risk of CMM. We investigated MC1R and CDKN2A variation in relation to phenoty
The development of a model for any energy system is required for proper design, operation or its monitoring. Models based on accurate mathematical expressions for physical processes are mostly useful to understand the actual operation of the plant. However, for large systems like combined heat and power (CHP) plants, such models are usually complex in nature. The estimation of output parameters us
There is a need for a deeper understanding of and discussion about different cultures' influences on life-views and ethical reasoning among professionals within healthcare. A culture can be seen as a set of guidelines, both explicit and implicit, which individuals inherit as members of a particular society, and which tells them how to view the world and how to behave in it in relation to other peo
