Results 191 to 200 of about 13,290 (279)

The Regulation of Squint Training [PDF]

open access: yesClinical and Experimental Optometry, 1935
openaire   +2 more sources

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

open access: yesClinical Genetics, Volume 110, Issue 4, Page 480-486, October 2026.
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 and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 ‐Related Noonan Syndrome

open access: yesClinical Genetics, Volume 110, Issue 4, Page 502-507, October 2026.
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

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

open access: yesClinical Genetics, Volume 110, Issue 4, Page 438-448, October 2026.
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

Tissue rigidity phase transition shapes morphogen gradients. [PDF]

open access: yesNat Cell Biol
Autorino C   +10 more
europepmc   +1 more source

A novel all‐in‐one dynamic wrinkle evaluation system: Development, validation and application in cosmetic industries

open access: yesInternational Journal of Cosmetic Science, Volume 48, Issue 5, Page 926-937, October 2026.
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

Glabellar Rhytids in Thyroid Eye Disease: Severity and Their Impact on Emotional Perception

open access: yesJournal of Cosmetic Dermatology, Volume 25, Issue 10, October 2026.
ABSTRACT Purpose To quantify glabellar rhytid severity in patients with Thyroid Eye Disease (TED) compared to age‐and sex‐matched controls and to evaluate its impact on external emotional perception. Methods A matched case–control study was performed comparing patients with TED of at least 6 months duration to controls (healthy individuals with no ...
Mannat Kaur   +3 more
wiley   +1 more source

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