Results 191 to 200 of about 1,331,219 (244)

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon   +20 more
wiley   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis   +8 more
wiley   +1 more source

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy   +6 more
wiley   +1 more source

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

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