Results 91 to 100 of about 492,754 (324)
Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz +3 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid +16 more
wiley +1 more source
Linguistics and Modern Linguistic Problems
Islamology, 2012 This paper deals with some sociolinguistic problems in the case of modern Arabic. The author devoted much attention to demarcation between language and dialect. The Arabic koine ( fusha ) is used with numerous dialects by the native speakers. There are many differences in vocabulary, phonetics and grammar of these dialects. This fact produces diglossia
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Caring Futures: Australian Attitudes About the Desirability of Care Work
Australian Journal of Social Issues, EarlyView.ABSTRACT Amid increasing public and policy attention on the care and support sector, which millions of Australians rely upon for essential services, care workers continue to advocate for better pay and fairer conditions. This article draws on the concepts of recognition, value and social distribution from feminist ethics of care scholarship to explore ...
Laura Davy +3 more
wiley +1 more source
Acoustics of guttural fricatives in Arabic, Armenian, and Kurdish: A case in remote data collection
Laboratory PhonologyGutturals – uvulars, pharyngeals, and laryngeals – are relatively phonetically under-studied, with previous acoustic investigations being limited to a handful of languages (and mainly Arabic). The goal of this paper is twofold: (i) to provide an acoustic
Alexei Kochetov +3 more
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Linguistics: Proto‐Mixtecan. Robert E. Longacre [PDF]
, 1958 María Teresa Fernández De Mirando
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Philanthropy and Indigenous Initiatives: Insights From Australian Donors
Australian Journal of Social Issues, EarlyView.ABSTRACT This paper draws on a survey and interview data, collected from a group of 180 donors who made monetary gifts to an Australian higher education institution, to better understand what drives individuals and organisations to donate to Indigenous initiatives.
Celina McEwen +4 more
wiley +1 more source
Quality of Javanese and Sundanese Vowels
Journal of the Southeast Asian Linguistics Society, 2017 The vowel quality of Javanese and Sundanese is influenced by phonation types. The acoustic measurements of the differences in phonation between all Javanese and Sundanese vowels have not been instrumentally examined. Evidence suggests that F1 lowering is
Arum Perwitasari +3 more
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LINGUISTICS: Fundamentals of Language. R
, 1959 Joseph Greenberg
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