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Last Updated: 10/31/2025
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Found 320 publications
A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.
Journal: Journal of clinical research in pediatric endocrinology
Published: September 05, 2025
Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature.
Journal: Frontiers in pediatrics
Published: May 08, 2025
Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature Review.
Journal: Journal of clinical research in pediatric endocrinology
Published: March 19, 2025
Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families.
Journal: Annals of medicine
Published: January 06, 2025
Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly.
Journal: American journal of medical genetics. Part A
Published: December 23, 2024
Modified inverted 'L' epicanthoplasty combined with incisional blepharoplasty for epicanthal folds and single eyelids: a clinical outcomes study.
Journal: American journal of translational research
Published: December 06, 2024
Reconstruction of Medial Epicanthal Fold Using Dual-Plane V-Y Advancement Flap.
Journal: Aesthetic plastic surgery
Published: October 23, 2024
Defining Ideal Medial Canthi via a Morphometric Analysis in Chinese.
Journal: Aesthetic plastic surgery
Published: September 24, 2024
Comprehensive Assessment of Dermatologic and Dysmorphic Manifestations in Patients With Down Syndrome.
Journal: Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)
Published: September 06, 2024
Medial Epicanthoplasty with the Skin-Redraping Technique: Technical Refinements for Predictable Outcomes.
Journal: Plastic and reconstructive surgery
Published: May 14, 2024
Last Updated: 10/31/2025