Results 111 to 120 of about 895,316 (318)

A cognitive occupation-based programme for people with multiple sclerosis: A new occupational therapy cognitive rehabilitation intervention

open access: yes, 2019
Introduction: Cognitive difficulties have been reported to have the greatest effect on function and quality of life in people with multiple sclerosis, affecting 50 60% of people. To date, few interventions have been developed to treat cognitive issues in
Hynes, Sinéad M., Forwell, Susan
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet   +10 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen   +5 more
wiley   +1 more source

Recommendation of occupational exposure limits (2024–2025)

open access: yes
The Japan Society for Occupational Health (JSOH) recommends the Occupational Exposure Limits (OELs) as reference values for preventing adverse health effects on workers caused by occupational exposure to chemical substances, continuous or intermittent ...
The Japan Society for Occupational Health May 22, 2024
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Occupational Exposure to Noise [PDF]

open access: yes
Content Update Note: Please use the "NIOSH Science Policy Update: Individual Fit-Testing Recommendation for Hearing Protection Devices", updated in January 2025, and available at: https://wcms-wp.cdc.gov/niosh/docs/2025-104/.

core  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Careers advisors’ opinion of the College of Occupational Therapists Careers Video

open access: yes, 2003
Using a mixed methodology, this study investigated the effectiveness of the College of Occupational Therapists’ careers video in increasing the knowledge of six careers advisers about the profession and obtained their views of the video as a ...
Mitchell, S, Craik, C
core  

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