Results 141 to 150 of about 162,110 (330)
Movement Disorders, EarlyView.Abstract Background Recent advances in proteomic profiling have enabled its use as a powerful approach in elucidating molecular mechanisms underlying Parkinson's disease, enabling the identification of disease‐associated protein alterations and candidate biomarkers for diagnosis, progression, and therapeutic response.
Victoria J. Dardov +21 more
wiley +1 more source
Diverse origins of centromere repeats in grasses (WGS data)
, 2016 Paul Bilinski
openalex +1 more source
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
Movement Disorders, EarlyView.Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot +22 more
wiley +1 more source
The Genomic Evolution of Early‐Stage Non‐Small Cell Lung Cancer
Medicine Advances, EarlyView.This study provides a comprehensive overview of the genomic landscape of early‐stage non‐small cell lung cancer, identifying the 4q12 deletion as a potential exclusive biomarker for the “oncogenic switch” from pre‐invasive to invasive lesions. It delineates that while EGFR and TP53 mutations act as early truncal drivers, the progressive increase in ...
Huatao Tang, Yang Zhang, Haiquan Chen
wiley +1 more source
Networks, EarlyView.ABSTRACT The analysis of certain properties of the underlying graph of a public transport network generates insights about the network's structure. Hereby, the choice of the graph representation depends on a trade‐off between complexity reduction and information preservation to adequately model a public transport network.
Michael Palk +2 more
wiley +1 more source
Parâmetros para Transformação de Datum WGS-72/SAD-69
, 1978 Osvaldo Aril Abib, Osvaldo Aril Abib
openalex +2 more sources
The Journal of Pathology, EarlyView.Abstract MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non‐syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in an extended splice region remain difficult to interpret and are often classified as variants of uncertain ...
Tao Shi +5 more
wiley +1 more source
Deliverable D.1.2.3 Pilot PT on outbreak surveillance based on WGS data
, 2022 Jeppe Boel +4 more
openalex +2 more sources