Results 91 to 100 of about 1,175,571 (348)

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison   +3 more
wiley   +1 more source

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

open access: yesAmerican 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

Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal screening for Down syndrome (DS) is offered to expectant parents receiving antenatal care in many countries, with an emphasis on providing parents with the opportunity to make informed choices about their pregnancy. We examined experiences of prenatal screening among mothers of children with DS living in England, Scotland, or Wales ...
Tamar Rutter   +5 more
wiley   +1 more source

Prevalence of inter-hemispheric asymetry in children and adolescents with interdisciplinary diagnosis of non-verbal learning disorder

open access: yesEinstein (São Paulo)
Objective To describe clinical and epidemiological features of children and adolescents with interdisciplinary diagnosis of non-verbal learning disorder and to investigate the prevalence of inter-hemispheric asymmetry in this population group. Methods
Alessandra Bernardes Caturani Wajnsztejn   +2 more
doaj   +1 more source

Investigating the socio-constructivist dimension of online interactions: the case of synchronous audio-graphic conferencing systems [PDF]

open access: yes, 2010
This study explores the quality of interactive patterns in audio-graphic conferencing environments and learners' involvement in interaction. Supporters of this technology claim that online interactions support socio-constructivist language learning ...
Mirza, Chahrazed
core  

Equitable Collaboration Between LMIC and HIC Researchers, Part I: A Preliminary Framework for Capacity Building in Psychiatric Genetics Research

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT International collaborations between high‐income countries (HICs) and low‐ and middle‐income countries (LMICs) have become increasingly essential in advancing global health, particularly within psychiatric research. These partnerships not only accelerate scientific discovery and enhance public health, but they also bring to light significant ...
Brenda Cabrera‐Mendoza   +27 more
wiley   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino   +8 more
wiley   +1 more source

E-LEARNING OR CLASSIC EDUCATION? [PDF]

open access: yes
The digital environment extents obvious the sphere, being used to provide information and to express ideas in different manners: verbal, visual, auditory or a mix by all these. As result, for educators will be more and more difficult to favour the handle
Maria-Lavinia Popescu
core  

Teaching Virtual Characters to use Body Language [PDF]

open access: yes, 2005
Non-verbal communication, or “body language”, is a critical component in constructing believable virtual characters. Most often, body language is implemented by a set of ad-hoc rules.We propose a new method for authors to specify and refine their ...
Friedman, Doron, Gillies, Marco
core  

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe   +19 more
wiley   +1 more source

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