Results 251 to 260 of about 49,406 (331)

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

open access: yes
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1427-1430, June 2026.
Alberto De Rosa   +7 more
wiley   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

open access: yesClinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau   +7 more
wiley   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

open access: yesClinical Genetics, Volume 109, Issue 6, Page 1038-1048, June 2026.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen   +5 more
wiley   +1 more source

Associations Between Makeup Use and Physical, Cognitive, and Psychological Functions in Community-Dwelling Older Women. [PDF]

open access: yesHealthcare (Basel)
Matori S   +8 more
europepmc   +1 more source

Red era: Dyeing yak hair fibres red with in situ generated silver nanoparticles using silver nitrate and a flavonoid‐containing plant extract

open access: yesColoration Technology, Volume 142, Issue 3, Page 439-455, June 2026.
Abstract Plants and their extracts have been used for dyeing fabrics, skin and hair for thousands of years and have been experiencing a revival in the last years due to increasing health risks arising from oxidative hair dye precursors. We developed a novel two‐step method to dye keratin fibres based on in situ formed silver nanoparticles including a ...
Julia K. Hachmann   +4 more
wiley   +1 more source

Oral Angiolymphoid Hyperplasia With Eosinophilia Exhibiting Cutaneous‐Type Histopathologic Features: Clinical Regression Following Hormonal Withdrawal and a 50‐Year Review

open access: yesJournal of Cutaneous Pathology, Volume 53, Issue 6, Page 491-501, June 2026.
Case report of a 30‐year‐old female. Asymptomatic, red‐purple hyperplastic lesion extending from teeth 21 to 25, with bleeding upon manipulation. Differential diagnosis included: inflammatory gingival hyperplasia, plasma cell gingivitis, leukemia, and Wegener's granulomatosis.
Pedro Vinícius Santos de Jesus   +8 more
wiley   +1 more source

Genome-wide association studies identify multiple genetic loci influencing eyebrow color variation in Europeans

open access: green, 2019
Fuduan Peng   +20 more
openalex   +1 more source

Sarcoidal Reaction of the Eyebrows after Micropigmentation: A Review of Therapeutic Approaches

open access: hybrid
Marinna Sampaio Campos   +5 more
openalex   +1 more source

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