Results 91 to 100 of about 1,821,294 (379)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp +7 more
wiley +1 more source
Związek filozofii Karla Jaspersa z klasyczną antropologią filozoficzną XX wieku
Analiza i Egzystencja, 2015 The main objective of this paper is to reconstruct Jaspers’ views on philosophical anthropology of the early twentieth century. The text can be divided into three parts.
Maciej Urbanek
doaj +1 more source
Anthropology Embedded in Worldview Studies: Modernity’s Failure and the Response of Christian Philosophy of Life in a Postmodern Age of Expressivism [PDF]
, 2019 This thesis examines two divergent streams of thought in Christian philosophy of life represented by the works of Francis Schaeffer and James K. A. Smith in an effort to help Christians live in a postmodern culture. Schaeffer and Smith ultimately address
Sexten, Nathan
core +2 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote +9 more
wiley +1 more source
The time it takes to make: design and use in architecture and archaeology [PDF]
, 2012 Book synopsis: Design and Anthropology challenges conventional thinking regarding the nature of design and creativity, in a way that acknowledges the improvisatory skills and perceptual acuity of people.
McFadyen, Lesley
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Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf +2 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm +2 more
wiley +1 more source
The problem with economics: naturalism, critique and performativity [PDF]
A critical review of debates on the performativity of economics from the vantage point of a general anthropology of modern economic reason.Performativity; Naturalism; Critique; Economics; Science Studies; Anthropology; Thought ...
Fabian Muniesa
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Anthropology and emotion [PDF]
Journal of the Royal Anthropological Institute, 2014 The centrality of emotion in thought and action is increasingly recognized in the human sciences, though basic questions of definition and scope remain unresolved. Where do emotions begin and end? How should we identify and analyse them? How should we write about them?
openaire +5 more sources