Results 101 to 110 of about 10,092 (250)
Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature
Clinical Genetics, EarlyView.Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi +6 more
wiley +1 more source
Clinical Genetics, EarlyView.This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska +3 more
wiley +1 more source
Clinical Genetics, EarlyView.This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell +14 more
wiley +1 more source
Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum
Clinical Genetics, EarlyView.Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz +23 more
wiley +1 more source
Story2Board: A Training‐Free Approach for Expressive Visual Storytelling
Computer Graphics Forum, EarlyView.Abstract We present Story2Board, a training‐free framework for expressive storyboard generation from natural language. Existing methods narrowly focus on subject identity, overlooking key aspects of visual storytelling such as spatial composition, background evolution, and narrative pacing.
D. Dinkevich +4 more
wiley +1 more source
Clinical and genetic characterization of intellectual disability
Developmental Medicine &Child Neurology, EarlyView.This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara +14 more
wiley +1 more source
International Journal of Cosmetic Science, EarlyView.Photo grading of dynamic lines in the dynamic line repeatability validation study. Abstract Objective This study aimed to develop and validate a novel, integrated dynamic wrinkle assessment system based on standardized, real‐time and multi‐angle facial images and video recordings, and to explore its potential application in evaluating the anti‐wrinkle ...
Xingzuo Liu +6 more
wiley +1 more source
More Than Words: The Multimodal Practice of Repetition in English as a Lingua Franca Interactions
International Journal of Applied Linguistics, EarlyView.ABSTRACT This study investigates the use of repetition as an interactional resource in video‐recorded English as a Lingua Franca (ELF) interactions, focusing on partial repeats produced in responses to wh‐questions. By adopting a multimodal conversation analytic approach, the analysis demonstrates that repetition in this context may either index the ...
Yujong Park
wiley +1 more source
A 3‐year‐old girl with a left optic nerve tumor
Brain Pathology, EarlyView.
Samuel López Muñoz +10 more
wiley +1 more source