Results 231 to 240 of about 161,020 (352)

CLCN4 ‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett   +4 more
wiley   +1 more source

Expanding the Phenotype of CYFIP2‐Related Developmental Epileptic Encephalopathy: Case Report and Literature Review

open access: yesAnnals of the Child Neurology Society, Volume 3, Issue 4, Page 314-323, December 2025.
ABSTRACT Background Pathogenic CYFIP2 variants cause developmental and epileptic encephalopathy (DEE), characterized by early‐onset intractable epilepsy and developmental delay. The disease course has not been delineated. Codon Arg87 is a de novo mutational hotspot associated with a severe DEE phenotype via gain‐of‐function mechanisms. Currently, there
Michaela Squire   +3 more
wiley   +1 more source

Auditory-Perceptual and Acoustic Characteristics of Sibilant and Vowel Sounds in Children with Cleft Palate Undergoing Rapid Palatal Expansion.

open access: yesFolia Phoniatr Logop
Bressmann T   +6 more
europepmc   +1 more source

Ecological meta‐analyses often produce unwarranted results

open access: yesEcology, Volume 106, Issue 12, December 2025.
Abstract Meta‐analysis (MA), a powerful tool for synthesizing reported results, is influential in ecology. While ecologists have long been well‐informed on the potential problems associated with nonindependence in experimental work (e.g., pseudoreplication), they have, until recently, largely neglected this issue in MA. However, results used in MAs are
Scott D. Peacor   +5 more
wiley   +1 more source

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