Results 151 to 160 of about 1,694,294 (282)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale   +2 more
wiley   +1 more source

Effects of Acetylcholine on Endothelial Function and Nitric Oxide Levels in Patients with Type 2 Diabetes Mellitus: A Randomized Sham-Controlled Study. [PDF]

open access: yesDiabetes Metab Syndr Obes
Abuzaid II   +7 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Beyond Ophthalmoplegia: Wernicke Encephalopathy with Anisocoria. [PDF]

open access: yesReports (MDPI)
Ito Y   +4 more
europepmc   +1 more source

The Legislation for Providing Animal Access in Australian Residential Aged Care: It's Not a Zoo

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Providing meaningful animal contact to residential aged care facility (RACF) residents is problematic due to a lack of animal policies and National Guidelines. This paper examines how Australian Legislation could influence access to animal contact in RACFs and aims to answer the question, ‘Could current Legislation facilitate the development ...
Wendy Newton   +2 more
wiley   +1 more source

Spinal Cord Injury-Related Male Infertility: Oxidative Stress, Inflammation, and Sperm DNA Damage. [PDF]

open access: yesJ Clin Med
Zikopoulos A   +7 more
europepmc   +1 more source

Sitting in Many Camps—Innovative Approaches and Methods for First Nations‐Led Research Into Indigenous Peacebuilding

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT In 2021, a desktop review was conducted of published references to First Nations peoples' approaches to conflict and its management in Australia (Project Stage One), culminating in a report published in 2024. This article focuses on Project Stage Two, a complex, innovative research undertaking building on the findings of Stage One, and being ...
Helen Bishop   +3 more
wiley   +1 more source

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