Results 251 to 260 of about 49,406 (331)
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
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
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]
Matori S +8 more
europepmc +1 more source
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
Long-term stability of hairline landmarks in treated frontal fibrosing alopecia: A retrospective cohort study. [PDF]
Ezzat RZ +6 more
europepmc +1 more source
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
Sarcoidal Reaction of the Eyebrows after Micropigmentation: A Review of Therapeutic Approaches
Marinna Sampaio Campos +5 more
openalex +1 more source

