Results 241 to 250 of about 28,400 (289)

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

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

Bilateral Hematoma Following Air Travel after Breast Augmentation: A Cautionary Tale and Literature Review. [PDF]

open access: yesPlast Reconstr Surg Glob Open
Kyriazidis I   +4 more
europepmc   +1 more source

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson   +2 more
wiley   +1 more source

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