Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Victoria Vincent
Biallelic Deletions of the Waardenburg II Syndrome Gene, SOX10 , Cause a Recognizable Arthrogryposis Syndrome
American Journal of Medical Genetics, Part A
Genetics
Related publications
A Novel Dominant Mutation in the SOX10 Gene in a Chinese Family With Waardenburg Syndrome Type�II
Molecular Medicine Reports
Oncology
Genetics
Molecular Biology
Biochemistry
Cancer Research
Molecular Medicine
Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome
American Journal of Human Genetics
Genetics
Anterior Lenticonus and the Waardenburg Syndrome.
British Journal of Ophthalmology
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Peters Plus Syndrome: A Recognizable Clinical Entity
Turkish Journal of Pediatrics
Child Health
Pediatrics
Perinatology
Waardenburg Syndrome Type 1: Case Report
The Journal of Kartal Training and Research Hospital
Biallelic Loss of Function Variants in PPP1R21 Cause a Neurodevelopmental Syndrome With Impaired Endocytic Function
Human Mutation
Genetics
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features
American Journal of Human Genetics
Genetics
Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome
Ophthalmic Surgery Lasers and Imaging Retina
Medicine
Ophthalmology
Surgery
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features
American Journal of Human Genetics
Genetics
