Results 201 to 210 of about 9,530,020 (358)

Phenotypic continuum of NFU1‐related disorders

open access: yesAnnals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov   +45 more
wiley   +1 more source

Winsorization greatly reduces false positives by popular differential expression methods when analyzing human population samples

open access: yesGenome Biology
A recent study found severely inflated type I error rates for DESeq2 and edgeR, two dominant tools used for differential expression analysis of RNA-seq data.
Lu Yang, Xianyang Zhang, Jun Chen
doaj   +1 more source

Specification of compilers as abstract data type representations

open access: yesSemantics-Directed Compiler Generation, 1980
M. Gaudel
semanticscholar   +1 more source

A potential biomarker of cognitive impairment: The olfactory dysfunction and its genes expression

open access: yesAnnals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1884-1897, December 2022., 2022
Abstract Objective Accumulation evidence has reported that olfactory impairment may be an essential clinical marker and predictor of mild cognitive impairment or Alzheimer's disease. Method Participants were enrolled in the population‐based, prospective study in Fuxin county, Liaoning province, China between 2019 and 2021.
Jiayi Song   +11 more
wiley   +1 more source

AN ANALYSIS OF SPEAKING ANXIETY OF 7th GRADE STUDENTS AT MTS DARURRAHMAN SAMPANG [PDF]

open access: yes
Nowadays, anxiety is a big issue in mastering EFL for Indonesian learners and it is also one of the factors that interfere with smoothness in the learning process, particularly in learning to speak.
Qomaruddin, Eko
core  

Clinical utility of cerebrospinal fluid biomarkers measured by LUMIPULSE® system

open access: yesAnnals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1898-1909, December 2022., 2022
Abstract Objectives Cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) are well‐established in research settings, but their use in routine clinical practice remains a largely unexploited potential. Here, we examined the relationship between CSF biomarkers, measured by a fully automated immunoassay platform, and brain β‐amyloid (Aβ ...
Hisashi Nojima   +9 more
wiley   +1 more source

NNICE: a deep quantile neural network algorithm for expression deconvolution

open access: yesScientific Reports
The composition of cell-type is a key indicator of health. Advancements in bulk gene expression data curation, single cell RNA-sequencing technologies, and computational deconvolution approaches offer a new perspective to learn about the composition of ...
Yong Won Jin, Pingzhao Hu, Qian Liu
doaj   +1 more source

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

open access: yesAnnals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han   +5 more
wiley   +1 more source

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