Results 81 to 90 of about 416,215 (289)
Pendekatan dalam Penelitian Linguistik Kebudayaan [PDF]
, 2009 Cultural linguistics is interdisipliner scientific field as interaction between linguistica and culturology. Both linguistics and cultural studies have distinctive characters, in both philosophy substance and its methodology.
Ola, S. S. (Simon)
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan +4 more
wiley +1 more source
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
wiley +1 more source
The Second Chance In Life: Adversities into Opportunities, Dr Bhaskar Bora, Self Published; 1st edition (28 February 2022), Paperback : 223 pages, Printed in Great Britain by Amazon, ISBN-10:1637543670, ISBN-13:978-1637543672, Genre: Autobiographical/ [PDF]
, 2022 Chowdhury, MPhil, M.A in Applied Linguistics, Manjira
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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
CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett +4 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Development of cultural identity is understood to be central to well‐being; however, it is not always prioritised for children in out‐of‐home care (OOHC). This paper examines current policy and practice designed to support the cultural identity and connection of non‐Indigenous culturally and linguistically diverse children (CALD) in OOHC, who ...
Rebekah Grace +8 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Hearing loss is a poignant issue in many Aboriginal and Torres Strait Islander communities and, without sufficient support, it can also contribute to disabling life experiences. The National Disability Insurance Scheme (NDIS) is intended to provide support to eligible people experiencing disability, however, to effectively serve this ...
Hannah Lack +4 more
wiley +1 more source