Results 141 to 150 of about 43,285 (257)

The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome

open access: yesClinical Genetics, Volume 108, Issue 2, Page 168-178, August 2025.
Here, we present data on genetic variants and phenotype development of 47 individuals with Bosch‐Boonstra‐Schaaf optic atrophy syndrome, a rare neurodevelopmental disorder, highlighting the fact that the disease does not appear to be fundamentally progressive.
Ilia Valentin   +4 more
wiley   +1 more source

Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene‐Related Demyelinating Peripheral Neuropathy

open access: yesEuropean Journal of Neurology, Volume 32, Issue 8, August 2025.
We analysed the clinical, electrophysiological, and genetic features of 103 patients from 89 families with SH3TC2 gene mutations identified in 27 French University Hospitals causing Charcot–Marie‐Tooth type 4C (CMT4C) demyelinating peripheral neuropathy.
Pauline Jaubert   +36 more
wiley   +1 more source

Investigating Primary School Nurses' Activities That Are Effective in Health Promotion and Primary Prevention: A Systematic Review

open access: yesJournal of School Health, Volume 95, Issue 8, Page 649-667, August 2025.
ABSTRACT Background School nurses that are regularly present at school can influence health behaviors in the early lifespan, establishing a foundation for healthy growth. This systematic review identifies activities targeting health promotion and primary prevention and assesses the activities that are effective in improving students' health outcomes ...
Lisa Kühne, Faith Mugo
wiley   +1 more source

Childhood amblyopia in a tertiary eye care center in western India. [PDF]

open access: yesInt J Ophthalmol
Kelkar JA, Jain HH, Kelkar AS, Kelkar S.
europepmc   +1 more source

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