Results 91 to 100 of about 8,741,380 (318)

Linguistic aspects of eponymic professional endocrinologic terminology

Mìžnarodnij Endokrinologìčnij Žurnal, 2017
Background. Special linguistic researches of terminological units of different branches of medicine allow analyzing in details the ways of creating the systems of clinical terminology from different aspects: historical, scientific, cultural, linguistic ...
N.I. Bytsko, L.B. Pavlovich, I.I. Bilous, I.V. Semenko   +3 more
doaj   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

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, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +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, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities

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, Matthew Adams, Anees Muhammad, Raeesa Tehreen, Arfa Azeem, Asif Ahmed, Nishanka Ubeyratna, Claire G. Salter, Joseph S. Leslie, Nikol Voutsina, Emma L. Baple, Andrew H. Crosby, Sabika Firasat, Muhammad Tahir Sarwar, Shamim Saleha, Asma Gul, Lettie E. Rawlins   +16 more
wiley   +1 more source

CausaLM: Causal Model Explanation Through Counterfactual Language Models

, 2020
Understanding predictions made by deep neural networks is notoriously difficult, but also crucial to their dissemination. As all ML-based methods, they are as good as their training data, and can also capture unwanted biases.
Feder, Amir, Oved, Nadav, Reichart, Roi, Shalit, Uri   +3 more
core  

"Language at Work: Analysing Language Use in Work, Education, Medical and Museum Contexts", Edited by Helen de Silva Joyce Newcastle upon Tyne, Cambridge Scholar Publishing, 2016, pp. 277 [PDF]

, 2017
The reviewed volume "Language at Work" explores the language used in a variety of workplace contexts ranging from call centres through secondary schools and hospitals to museums.
Castello, Erik
core  

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, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 more
wiley   +1 more source

Hub and Spokes in Intellectual Disability Mental Health Support

Australian Journal of Social Issues, EarlyView.
ABSTRACT The distribution of specialist health services is usually uneven by location due to limited resources, which is a problem for people with complex needs. In this context, how can a hub and spoke model offer appropriate services for people with intellectual disability and mental health needs?
Christiane Purcal, Karen R. Fisher, Janelle Weise, Peri O'Shea, Julian Trollor   +4 more
wiley   +1 more source

Is Alzheimer’s Disease a Cross-Linguistic Issue? Comparing Corpora from a Role and Reference Grammar Perspective

Círculo de Lingüística Aplicada a la Comunicación
Taking Role and Reference Grammar  (Van Valin y LaPolla, 1997; Van Valin, 2005) as theoretical framework, we aim to compare three corpora of patients with Alzheimer’s disease: two in Spanish — PerLA (Pérez Mantero, 2014) and Peraita & Grasso (2010 ...
Alejandro Suárez Rodríguez
doaj   +1 more source

Clinical Communication Across Linguistic and Cultural Boundaries [PDF]

International Journal of Community & Family Medicine, 2018
Due to conflicts and natural disasters every day, thousands of people are leaving their own countries and moving to resettle in another part of the world. This leads, amongst other things, to cross-lingual and cross-cultural clinical encounters. In this context, mutual understanding between patients and healthcare professional is vital for the patients'
openaire   +2 more sources