Results 241 to 250 of about 8,890,530 (360)
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
[Ethical, legal and social issues publications on biobanks 2011-2018. A scoping review.]
Violeta Argudo‐Portal +1 more
openalex +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
Clinical metagenomics: ethical issues. [PDF]
Johnson T +3 more
europepmc +1 more source
The critical thinking skills of biology teacher candidates toward the ethical issues
Yuyun Maryuningsih +3 more
openalex +2 more sources
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
What Are the Ethical Issues Surrounding Extended Reality in Mental Health? A Scoping Review of the Different Perspectives. [PDF]
Goulet MH +7 more
europepmc +1 more source
Building the Bridge from Bench to Bedside: Ethical Issues in Translational Stem Cell Research
Kristina Hug
openalex +1 more source

