Results 291 to 300 of about 18,089,084 (411)
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
How do school nurses spend their time? A quantitative time study within Norwegian school health services. [PDF]
Hustad G, Bortoli MM, Hansen EH.
europepmc +1 more source
School Dropout, Absenteeism and Coverage of Sexual and Reproductive Health Services in South Africa: Are Those Most at Risk Reached? [PDF]
Tracy McClinton Appollis +3 more
openalex +1 more source
The Catholic Physician\u27s Responsibility for School Health Supervision [PDF]
Donahue, James J.
core +1 more source
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela +13 more
wiley +1 more source
Outbreak of Severe Obesity and Metabolic Complications in Children and Adolescents Using the Korea National School Health Examination (KNSHE) From 2017 to 2021. [PDF]
Kim KH +6 more
europepmc +1 more source
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Making Teachers and School Health Nurses Part of Pediatric Diabetes Teams [PDF]
Hatun Ş +3 more
europepmc +1 more source

