Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 01/07/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 1230 publications
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
Journal: The Journal of dermatology
Published: September 29, 2025
Pigment Pathways Collide: A Rare Case of Retinitis Pigmentosa and Nevus of Ota.
Journal: Cureus
Published: August 18, 2025
A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1.
Journal: Frontiers in genetics
Published: August 04, 2025
Expert consensus on prognostic evaluation of cochlear implantation in hereditary hearing loss
Journal: Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery
Published: August 03, 2025
Association of PAX3 Gene Polymorphism with Three-Dimensional Nasal Root Morphology.
Journal: International journal of molecular sciences
Published: July 11, 2025
Exploration of the pathogenic mechanism of a novel c.661_664dup (p.P222Lfs*60) variant of SOX10 gene
Exploration of the pathogenic mechanism of a novel c.661_664dup (p.P222Lfs*60) variant of SOX10 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: July 07, 2025
Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.
Journal: Scientific reports
Published: June 21, 2025
Bilateral vestibular hypofunction in children.
Journal: International journal of pediatric otorhinolaryngology
Published: June 17, 2025
Vestibular Deficit in Patients with Waardenburg Syndrome.
Journal: Biomedicines
Published: June 13, 2025
Mild features of partial PAX3 deletion in patients with prenatal Waardenburg syndrome: a case report and literature review.
Journal: Frontiers in pediatrics
Published: June 06, 2025
Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.
Journal: International journal of molecular sciences
Published: June 05, 2025
Waardenburg Syndrome: Review of Genotype-Phenotype Relationships in 30 Patients in Hong Kong.
Journal: American journal of medical genetics. Part A
Published: May 29, 2025
Last Updated: 01/07/2026