Distinctive features and challenges in catenane chemistry. [PDF]
Au-Yeung HY, Deng Y.
europepmc +1 more source
Peculiarities of the Structure and Distinctive Features of the Interpretation in “Motley Tales with Witticisms” by V. F. Odoyevsky [PDF]
T. P. Vorova
openalex +1 more source
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown +6 more
wiley +1 more source
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis. [PDF]
Eto K +12 more
europepmc +1 more source
Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features. [PDF]
Shimojima Yamamoto K +2 more
europepmc +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Automatic Speaker Recognition System Based on Gaussian Mixture Models, Cepstral Analysis, and Genetic Selection of Distinctive Features. [PDF]
Kamiński KA, Dobrowolski AP.
europepmc +1 more source
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen +11 more
wiley +1 more source

